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Distal Hereditary Motor Neuronopathy, Autosomal Recessive

1. Disease Information

2026-06-17
Falcon MONDO:0015363 Model: Edison Scientific Literature 50 citations

1. Disease Information

1.1 What is the disease?

Hereditary motor neuropathies (HMN)—including distal forms often termed dHMN—are defined clinically by lower motor neuron dysfunction with slowly progressive, length-dependent distal muscle weakness and atrophy and absence of sensory involvement. Neurophysiology typically shows chronic denervation on needle EMG with normal or mildly reduced motor nerve conduction velocity and preserved sensory responses, helping distinguish dHMN from classic axonal CMT2. (zambon2023earlyonsethereditary pages 1-1, zambon2023earlyonsethereditary pages 1-2)

1.2 Key identifiers and controlled vocabularies

Because “autosomal recessive dHMN” is a category that includes multiple gene-defined subtypes, the most robust identifiers in the retrieved evidence are gene-table (“nosology”) identifiers:

MONDO / Orphanet / ICD-10/ICD-11 / MeSH / OMIM disease IDs: these were not directly retrievable from the current tool evidence for the broad category “autosomal recessive distal hereditary motor neuronopathy,” and would need to be curated per gene-defined subtype (e.g., IGHMBP2-related HMNR/SMARD1/CMT2S; SIGMAR1-related HMNR/ALS16). (benarroch2024the2024version pages 28-29, benarroch2024the2024version pages 37-38)

1.3 Evidence source type

The retrieved information comes from: - Aggregated disease-level resources: curated gene tables for neuromuscular disorders (Benarroch et al., 2024/2023). (benarroch2024the2024version pages 28-29, benarroch2023the2023version pages 27-28) - Human clinical cohorts/case series: dHMN genetic-spectrum cohorts and case series (e.g., Wu 2022; Frasquet 2021). (wu2022geneticspectrumin pages 1-2, frasquet2021distalhereditarymotor pages 2-3) - Primary gene discovery/phenotyping studies: RTN2 deficiency (Brain 2024). (maroofian2024rtn2deficiencyresults pages 1-2) - Case reports: e.g., HINT1 (2023), MME (2024). (jiang2023casereporta pages 1-2, zhang2024anovelvariant pages 1-2)

2. Etiology

2.1 Disease causal factors

Primary cause: germline genetic variants affecting motor neuron biology and/or peripheral motor axon integrity, with autosomal recessive inheritance in this category. (zambon2023earlyonsethereditary pages 1-2, benarroch2024the2024version pages 28-29)

Examples of AR dHMN mechanisms supported by recent primary studies: - Loss-of-function (LoF) variants in RTN2 cause a recessive dHMN with pyramidal features; RTN2 encodes an ER-resident membrane-shaping protein. (maroofian2024rtn2deficiencyresults pages 1-2) - Biallelic SORD LoF causes motor-predominant axonal neuropathy with sorbitol pathway disruption (sorbitol accumulation described in patient fibroblasts in referenced functional work). (liu2021clinicalandgenetic pages 6-8) - Biallelic HINT1 variants cause axonal motor-predominant neuropathy often with neuromyotonia; phenotypic variability includes cases without neuromyotonia and possible myopathy overlap. (zambon2023earlyonsethereditary pages 4-5, jiang2023casereporta pages 1-2) - Biallelic MME variants can cause late-onset motor-predominant distal neuropathy (dHMN phenotype). (zhang2024anovelvariant pages 2-4)

2.2 Risk factors

  • Genetic: parental carrier status; consanguinity increases risk for homozygous LoF variants (evident in RTN2 study families described as consanguineous). (maroofian2024rtn2deficiencyresults pages 1-2)
  • Non-genetic/environmental: no specific exposures were identified in the retrieved evidence as causal or modifying for AR dHMN; disease is primarily genetic.

2.3 Protective factors

No protective genetic or environmental factors were identified in the retrieved evidence.

2.4 Gene–environment interactions

No gene–environment interaction evidence was identified in the retrieved evidence.

3. Phenotypes

3.1 Core phenotype pattern (motor-predominant distal neuropathy)

Common features across HMN/dHMN definitions and cohorts include: - Distal limb weakness and atrophy (often lower limbs first) (zambon2023earlyonsethereditary pages 1-1, zambon2023earlyonsethereditary pages 4-5) - Reduced/absent deep tendon reflexes (zambon2023earlyonsethereditary pages 4-5, liu2021clinicalandgenetic pages 3-4) - Foot deformities (e.g., pes cavus), gait disturbance/foot drop (liu2021clinicalandgenetic pages 3-4, maroofian2024rtn2deficiencyresults pages 4-5) - EMG: chronic neurogenic changes/denervation; NCS: motor axonal involvement with preserved/near-normal sensory responses (zambon2023earlyonsethereditary pages 1-2, maroofian2024rtn2deficiencyresults pages 4-5)

3.2 Examples of subtype-specific phenotypes (AR)

RTN2-related AR dHMN with spasticity (2024): - Distal weakness in upper and lower limbs; lower-limb spasticity and hyperreflexia; onset in first decade; slowly progressive. - Cohort-level statistic: all remained ambulatory over mean disease duration 19.71 ± 13.70 years. (maroofian2024rtn2deficiencyresults pages 1-2)

SORD-related AR dHMN/CMT2 overlap (2021): - Childhood/adolescent onset (mean 14 years, range 6–17); motor-predominant distal lower-limb weakness/atrophy; universal foot drop; pes cavus; reflex loss. - Electrophysiology: pure motor axonal neuropathy with markedly reduced CMAPs and preserved sensory responses; small fiber findings can occur. (liu2021clinicalandgenetic pages 3-4)

HINT1-related AR motor-predominant axonal neuropathy (2023): - Often neuromyotonia, but variable: the case report states “He had no evidence of neuromyotonia in electrodiagnostic studies.” (jiang2023casereporta pages 3-5) - Case report adds muscle pathology detail: muscle biopsy showed fibers “harboring rimmed vacuoles without inflammation,” suggesting neuropathy–myopathy overlap in some individuals. (jiang2023casereporta pages 1-2)

MME-related AR late-onset dHMN (2024): - Late onset (reported onsets 51 and 58 years); motor-predominant distal lower-limb weakness/wasting; electrophysiology with severe motor axonal impairment and mild sensory abnormalities. (zhang2024anovelvariant pages 2-4)

3.3 Suggested HPO terms (non-exhaustive)

Core dHMN/HMN phenotype mapping: - Distal muscle weakness: HP:0002460 (Distal muscle weakness) - Muscle atrophy: HP:0003202 (Muscle atrophy) - Foot drop: HP:0001761 (Foot drop) - Pes cavus: HP:0001760 (Pes cavus) - Areflexia / hyporeflexia: HP:0001284 (Areflexia) / HP:0001265 (Hyporeflexia) - Neurogenic EMG changes: HP:0030004 (Neurogenic changes on electromyography) [term naming may vary by HPO version] - Spasticity (for RTN2-like pyramidal forms): HP:0001257 (Spasticity), HP:0001347 (Hyperreflexia) - Neuromyotonia (subset; HINT1 classic): HP:0003393 (Neuromyotonia)

3.4 Quality-of-life impact

The retrieved evidence documents substantial functional impairment (gait disturbance, progressive weakness), but no standardized QoL instruments (SF-36/EQ-5D/PROMIS) were available in the tool-retrieved texts.

4. Genetic / Molecular Information

4.1 Causal genes (AR examples with strong evidence in retrieved sources)

Authoritative, curated AR HMNR subtype mapping (gene-table): IGHMBP2 (HMNR1), SIGMAR1 (HMNR2), PLEKHG5 (HMNR4). (benarroch2024the2024version pages 28-29)

Primary-study and cohort-supported AR causes relevant to distal motor neuropathy phenotypes: - RTN2 (biallelic LoF; Brain 2024) (maroofian2024rtn2deficiencyresults pages 1-2) - SORD (biallelic pathogenic variants; common recurrent c.757delG) (liu2021clinicalandgenetic pages 1-3) - HINT1 (biallelic variants; often neuromyotonia) (zambon2023earlyonsethereditary pages 4-5) - MME (biallelic variants can produce late-onset dHMN) (zhang2024anovelvariant pages 2-4)

4.2 Pathogenic variants (examples with variant nomenclature)

4.3 Population frequency / carrier frequency (available examples)

  • For SORD c.757delG, the Chinese study reports control allele frequency 0.0046 (3/650) and notes gnomAD counts and population-specific frequencies (e.g., ~0.002 in Asian populations). (liu2021clinicalandgenetic pages 4-6)

4.4 Functional consequences

Across these AR dHMN examples, the dominant theme is loss-of-function (LoF): - RTN2: homozygous LoF variants; mechanistic link to ER biology and calcium handling (see Pathophysiology). (maroofian2024rtn2deficiencyresults pages 1-2) - SORD: frameshift/splice variants consistent with LoF; functional consequence includes sorbitol accumulation (in referenced fibroblast studies). (liu2021clinicalandgenetic pages 6-8) - MME: nonsense variants predict truncated neprilysin; motor-predominant neuropathy phenotype in biallelic individuals. (zhang2024anovelvariant pages 2-4, senderek2020thegeneticlandscape pages 36-38)

4.5 Modifier genes / epigenetics

The retrieved evidence does not provide validated modifier genes or epigenetic signatures for AR dHMN specifically.

5. Environmental Information

No consistent toxin, lifestyle, or infectious triggers were identified in the retrieved evidence; AR dHMN is primarily genetic.

6. Mechanism / Pathophysiology

6.1 Current mechanistic understanding (gene-anchored)

Endoplasmic reticulum (ER) homeostasis and Ca2+ handling (RTN2): - RTN2 is described as an ER-resident membrane-shaping protein, and C. elegans ret-1 (RTN2 orthologue) LoF shows behavioral/morphological phenotypes. - Importantly, treatment of the C. elegans mutant with an ER/SR Ca2+ reuptake inhibitor (2,5-di-tert-butylhydroquinone) rescued key phenotypic differences, supporting a mechanistic link to ER/SR calcium dynamics and suggesting a therapeutic direction. (maroofian2024rtn2deficiencyresults pages 1-2, maroofian2024rtn2deficiencyresults pages 5-6)

Polyol pathway / sorbitol metabolism (SORD): - Biallelic SORD LoF is associated with motor-predominant neuropathy; functional consequence described includes sorbitol accumulation (patient fibroblast evidence referenced in the cohort paper) and rescue in models by aldose reductase inhibitors (mechanistically targeting upstream sorbitol production). (liu2021clinicalandgenetic pages 6-8)

Protein interaction / neuromyotonia-associated motor neuropathy (HINT1): - HINT1-related motor neuropathy often features neuromyotonia; however, a notable minority lacks neuromyotonia. (zambon2023earlyonsethereditary pages 4-5) - The 2023 case report suggests possible combined neuropathic and myopathic involvement with rimmed vacuoles in muscle, broadening the phenotype. (jiang2023casereporta pages 1-2)

Neuropeptide processing / neprilysin biology (MME): - Biallelic MME variants are associated with a motor-predominant distal neuropathy phenotype in some families; broader axonal neuropathy cohorts support biallelic disease and heterozygous reduced-penetrance risk alleles. (zhang2024anovelvariant pages 2-4, senderek2020thegeneticlandscape pages 36-38)

6.2 Causal chain (example: RTN2)

Genetic LoF in RTN2 → altered ER-associated neuronal homeostasis (candidate: Ca2+ signaling) → distal motor axon dysfunction (axonal motor neuropathy on NCS/EMG) → progressive distal weakness/atrophy + pyramidal signs (spasticity/hyperreflexia) → long-term disability with preserved ambulation in many. (maroofian2024rtn2deficiencyresults pages 1-2, maroofian2024rtn2deficiencyresults pages 4-5)

6.3 Suggested GO biological process terms (examples)

6.4 Suggested Cell Ontology (CL) terms (key affected cell types)

  • Alpha motor neuron: CL:0000578
  • Schwann cell (often spared in “pure axonal motor neuropathy,” but relevant in peripheral nerve biology): CL:0000218

7. Anatomical Structures Affected

7.1 Organ/system level

7.2 Tissue/cell level (UBERON/CL suggestions)

7.3 Subcellular level

8. Temporal Development

8.1 Onset patterns

8.2 Progression

Slow progression is common: - RTN2 cohort: slowly progressive; ambulatory over long disease durations (mean ~19.7 years). (maroofian2024rtn2deficiencyresults pages 1-2) - SORD cohort: generally mild progression with preserved ambulation reported in the Chinese series. (liu2021clinicalandgenetic pages 6-8)

9. Inheritance and Population

9.1 Inheritance pattern

Autosomal recessive inheritance is a key mode for many HMN genes, alongside autosomal dominant and X-linked forms across the broader HMN/dHMN umbrella. (zambon2023earlyonsethereditary pages 1-2)

9.2 Epidemiology

Reliable epidemiology is limited and varies by case ascertainment: - HMN pooled prevalence estimate: 2.14 per 100,000. (zambon2023earlyonsethereditary pages 1-1) - A dHMN cohort study calculated a minimum prevalence of 2.3 per 100,000 for dHMN (population-specific estimate). (frasquet2021distalhereditarymotor pages 1-2)

9.3 Diagnostic yield (genetic solve rate)

dHMN remains frequently unsolved genetically: - Zambon 2023 review: “more than 60%” remain genetically uncharacterized in HMN. (zambon2023earlyonsethereditary pages 1-1) - Wu 2022 cohort (90 families): pathogenic/likely pathogenic yield 36.7% (33/90); including VUS 46.7% (42/90). (wu2022geneticspectrumin pages 1-2) - Frasquet 2021: yields differ by subgroup; ~40–45% reported in their referral cohort strata. (frasquet2021distalhereditarymotor pages 2-3)

10. Diagnostics

10.1 Clinical and electrophysiologic testing

10.2 Genetic testing strategies (real-world implementation)

Gene panels and WES/WGS: - Real-world diagnostic pathways increasingly begin with common-gene testing for CMT, then broaden to multigene panels/NGS. A review notes that testing four genes (PMP22, GJB1, MPZ, MFN2) detects ~80–90% of detectable CMT mutations, while broader NGS is used for remaining cases. (rudnikschoneborn2020charcotmarietoothdiseaseand pages 1-2) - Wu 2022 used a large targeted gene panel (445 genes) and WES, illustrating standard clinical genomics workflows in dHMN. (wu2022geneticspectrumin pages 1-2)

Need to test beyond SNVs (2022–2024): - Repeat expansions: Wu 2022 states, “Abnormal expansion of GGC repeats were identified in the 5‘UTR of the NOTCH2NLC gene,” and recommends STR testing in genetically unsolved dHMN. (wu2022geneticspectrumin pages 6-8, wu2022geneticspectrumin pages 1-2) - 2024 expert analysis emphasizes that short-read sequencing can miss difficult regions (e.g., pseudogene mapping for SORD; GC-rich/dark regions) and highlights structural variation and STR expansions as important contributors; the authors note that “over 50% of patients in some IPN cohorts remain genetically unsolved,” motivating long-read/WGS strategies and improved SV/STR pipelines. (parmar2024geneticsofinherited pages 1-2, parmar2024geneticsofinherited pages 3-3)

10.3 Differential diagnosis

11. Outcome / Prognosis

Quantitative survival/life expectancy statistics were not available in the retrieved evidence.

12. Treatment

12.1 Disease-modifying therapies

No established disease-modifying therapy for AR dHMN as a category was identified in the retrieved evidence.

12.2 Mechanism-informed experimental directions

12.3 Supportive and rehabilitative care (current practice)

The retrieved sources did not provide detailed rehabilitation protocols; however, given the distal weakness/foot drop phenotype, real-world management typically includes mobility aids/orthotics and physical therapy (not specifically evidenced in the retrieved texts).

MAXO suggestions (supportive care concepts): - Physical therapy: MAXO:0000011 - Orthotic device use (e.g., ankle-foot orthosis): MAXO:0000758 (orthosis) [term naming may vary] - Genetic counseling: MAXO:0000072

12.4 Clinical trials

No disease-specific interventional clinical trials for AR dHMN were retrieved via the available tools in this run.

13. Prevention

Because AR dHMN is genetic, prevention is primarily reproductive/genetic risk management: - Carrier testing and cascade testing in families once a pathogenic variant is identified. - Genetic counseling for recurrence risk and reproductive options.

No population screening/newborn screening recommendations were identified in the retrieved evidence.

14. Other Species / Natural Disease

No naturally occurring non-human disease analogs were identified in the retrieved evidence.

15. Model Organisms

C. elegans model (RTN2 orthologue ret-1): - RTN2 paper reports characterization of C. elegans ret-1 loss-of-function with behavioral/morphological differences and pharmacologic rescue of features with DTBHQ, supporting a tractable model for mechanistic and therapeutic exploration. (maroofian2024rtn2deficiencyresults pages 1-2, maroofian2024rtn2deficiencyresults pages 5-6)

2023–2024 “latest research” highlights (curated)

  1. New AR gene–phenotype expansion (RTN2): RTN2 deficiency defined as a distinct AR dHMN with pyramidal signs and long-term ambulation; provides a mechanistic foothold in ER/Ca2+ biology and a preclinical rescue signal. (maroofian2024rtn2deficiencyresults pages 1-2, maroofian2024rtn2deficiencyresults pages 5-6)
  2. Practical genomics frontier: 2024 expert review emphasizes SVs, STR expansions, dark regions, and mapping issues (pseudogenes/GC-rich) as major reasons for missing heritability and supports moving beyond standard short-read exome analysis when dHMN remains unsolved. (parmar2024geneticsofinherited pages 3-3, parmar2024geneticsofinherited pages 1-2)
  3. Repeat expansion relevance for motor neuropathy phenotypes: Wu 2022 demonstrates that dHMN can be driven by NOTCH2NLC GGC expansions and explicitly reports: “Abnormal expansion of GGC repeats were identified in the 5‘UTR of the NOTCH2NLC gene,” underscoring the need for STR testing in dHMN workups. (wu2022geneticspectrumin pages 6-8)
  4. Expansion of AR late-onset dHMN allelic spectrum (MME, 2024): novel biallelic variants expand the motor-predominant phenotype range and illustrate late-onset presentations. (zhang2024anovelvariant pages 2-4)

Visual evidence (figures/tables)

The RTN2 discovery paper includes pedigrees/variant schematics and a detailed clinical table summarizing the 14 affected individuals. (maroofian2024rtn2deficiencyresults media d5aef6a5, maroofian2024rtn2deficiencyresults media ce36ef66, maroofian2024rtn2deficiencyresults media ff422701)

Summary table of key AR dHMN genes

Table (click to expand)
Gene (HGNC symbol) Disease label / subtype Inheritance Key clinical hallmarks Typical onset Key statistics (diagnostic yield / frequency where available) Key references with year + URL
RTN2 AR dHMN with lower-limb spasticity; distinct recessive dHMN subtype AR Distal upper and lower limb weakness, lower-limb spasticity, hyperreflexia, finger extensor weakness, foot deformities; axonal motor neuropathy on NCS/EMG; slowly progressive with preserved ambulation in reported cohort First decade; table/image summary indicates 1–6 years in many cases 14 affected individuals from 7 consanguineous families; all ambulatory over mean disease duration 19.71 ± 13.70 years; ages 9–50 years in cohort (maroofian2024rtn2deficiencyresults pages 1-2, maroofian2024rtn2deficiencyresults media d5aef6a5) Maroofian et al., 2024, Brain, https://doi.org/10.1093/brain/awae091 (maroofian2024rtn2deficiencyresults pages 1-2, maroofian2024rtn2deficiencyresults pages 4-5, maroofian2024rtn2deficiencyresults pages 6-8)
SORD AR dHMN / axonal CMT2 overlap; common recessive cause AR Motor-predominant distal lower-limb weakness/atrophy, foot drop, pes cavus, decreased/absent reflexes; mostly preserved sensory NCS though small-fiber abnormalities can occur Childhood/adolescence; mean onset about 14 years in Chinese series 5/78 (6.4%) of unresolved CMT2/dHMN in one Chinese cohort; 1% (5/485) across hereditary neuropathy cohort; estimated up to ~10% of previously undiagnosed dHMN/CMT2; 3.1% in Spanish dHMN series; recurrent variant c.757delG (p.A253Qfs*27) (liu2021clinicalandgenetic pages 1-3, liu2021clinicalandgenetic pages 3-4, frasquet2021distalhereditarymotor pages 1-2, frasquet2021distalhereditarymotor pages 2-3) Liu et al., 2021, Front Neurol, https://doi.org/10.3389/fneur.2021.733926; Frasquet et al., 2021, Eur J Neurol, https://doi.org/10.1111/ene.14700 (liu2021clinicalandgenetic pages 1-3, liu2021clinicalandgenetic pages 3-4, frasquet2021distalhereditarymotor pages 1-2)
HINT1 HMN with neuromyotonia; recessive motor-predominant axonal neuropathy AR Severe distal weakness/atrophy, axonal motor-predominant neuropathy, CK elevation; neuromyotonia/myokymia common but not universal; some muscle biopsies show chronic denervation and, in a 2023 case, rimmed vacuoles suggesting neuropathy–myopathy overlap Usually first decade in review cohorts, but adult-onset cases also reported Neuromyotonia in about 70–80% of patients; 20–30% may lack neuromyotonia; 2023 case report described novel homozygous p.I63N (c.188T>A) in two brothers without neuromyotonia (jiang2023casereporta pages 3-5, zambon2023earlyonsethereditary pages 4-5) Jiang et al., 2023, Front Neurol, https://doi.org/10.3389/fneur.2023.1007051; Zambon et al., 2023, Brain, https://doi.org/10.1093/brain/awac452 (jiang2023casereporta pages 1-2, zambon2023earlyonsethereditary pages 4-5, zambon2023earlyonsethereditary pages 5-5)
IGHMBP2 HMNR1; allelic to CMT2S AR Distal hereditary motor neuropathy / distal SMA spectrum; can overlap with SMARD1 and CMT2S; distal weakness and motor neuronopathy phenotype in aggregated tables Often early childhood / infantile for severe spectrum; variable Listed as HMNR1 in the 2024 gene table; authoritative aggregated disease mapping rather than cohort frequency in retrieved evidence Benarroch et al., 2024, Neuromuscular Disorders, https://doi.org/10.1016/j.nmd.2023.12.007 (benarroch2024the2024version pages 28-29, benarroch2024the2024version pages 37-38)
SIGMAR1 HMNR2; allelic to ALS16 AR Distal hereditary motor neuropathy that can mimic juvenile ALS; distal weakness/atrophy, possible pyramidal signs, slow progression, axonal motor neuropathy on EMG/NCS Often childhood / juvenile onset in reported cases Listed as HMNR2 in 2024 gene table; overlap with ALS-like phenotype emphasized in case literature and review evidence Benarroch et al., 2024, Neuromuscular Disorders, https://doi.org/10.1016/j.nmd.2023.12.007; Ma et al., 2020, Neuromuscular Disorders, https://doi.org/10.1016/j.nmd.2020.05.005 (benarroch2024the2024version pages 28-29)
PLEKHG5 HMNR4; allelic to CMTRIC AR Distal hereditary motor neuropathy / lower motor neuron disease spectrum; aggregated source indicates established recessive subtype with overlap to recessive intermediate CMT Variable; not specified in retrieved excerpt Listed as HMNR4 in 2024 gene table; no frequency statistics in retrieved excerpt Benarroch et al., 2024, Neuromuscular Disorders, https://doi.org/10.1016/j.nmd.2023.12.007 (benarroch2024the2024version pages 28-29)
MME AR late-onset dHMN (overlaps with axonal CMT2) AR (biallelic disease; heterozygous risk/reduced penetrance also described in broader neuropathy literature) Late-onset distal lower-limb weakness/wasting, steppage gait, distal > proximal weakness, motor-predominant axonal neuropathy with mild sensory involvement on studies despite minimal sensory symptoms Late adult onset; reported probands onset 51 and 58 years in 2024 Chinese families 2024 report identified novel homozygous c.2122A>T (p.K708*) and compound heterozygous c.1342C>T / c.2071_2072delinsTT (p.R448* / p.A691L); in broader 2020 axonal neuropathy cohort, MME accounted for 34.8% of genetically solved cases and biallelic cases had median onset 45 years (zhang2024anovelvariant pages 2-4, senderek2020thegeneticlandscape pages 36-38) Zhang et al., 2024, BMC Med Genomics, https://doi.org/10.1186/s12920-024-01996-3; Senderek et al., 2020, Neurology, https://doi.org/10.1212/WNL.0000000000011132 (zhang2024anovelvariant pages 2-4, senderek2020thegeneticlandscape pages 36-38)
NOTCH2NLC (GGC repeat expansion; non-classic mechanism) Repeat-expansion–associated dHMN phenotype / lower motor neuron syndrome; not classic AR HMNR Usually AD / repeat-expansion mechanism dHMN phenotype in a subset, with distal weakness and intranuclear inclusions; important in genetically unsolved patients because standard exon-focused NGS may miss repeat expansions Variable; often adult onset in reported families In a 90-family dHMN cohort, 2 dominant families had 5'UTR GGC repeat expansion in NOTCH2NLC; overall molecular yield 36.7% (33/90), rising to 46.7% including VUS, and authors recommended STR screening in unsolved dHMN (wu2022geneticspectrumin pages 1-2, wu2022geneticspectrumin pages 2-4, wu2022geneticspectrumin pages 6-8) Wu et al., 2022, Ann Clin Transl Neurol, https://doi.org/10.1002/acn3.51543; Parmar et al., 2024, JNNP, https://doi.org/10.1136/jnnp-2024-333436 (wu2022geneticspectrumin pages 1-2, wu2022geneticspectrumin pages 2-4, parmar2024geneticsofinherited pages 3-4)

Table: This table summarizes the principal autosomal recessive distal hereditary motor neuropathy genes and subtypes supported by the retrieved evidence, with phenotype, onset, frequency, and key references. It also includes NOTCH2NLC as an important non-classic repeat-expansion mechanism relevant to genetically unsolved dHMN cases.

References

  1. (zambon2023earlyonsethereditary pages 1-2): Alberto A Zambon, Veronica Pini, Luca Bosco, Yuri M Falzone, Pinki Munot, Francesco Muntoni, and Stefano C Previtali. Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases. Brain, 146:806-822, Nov 2023. URL: https://doi.org/10.1093/brain/awac452, doi:10.1093/brain/awac452. This article has 36 citations and is from a highest quality peer-reviewed journal.

  2. (maroofian2024rtn2deficiencyresults pages 1-2): Reza Maroofian, Payam Sarraf, Thomas J O’Brien, Mona Kamel, Arman Cakar, Nour Elkhateeb, Tracy Lau, Siddaramappa Jagdish Patil, Christopher J Record, Alejandro Horga, Miriam Essid, Laila Selim, Hanene Benrhouma, Thouraya Ben Younes, Giovanni Zifarelli, Alistair T Pagnamenta, Peter Bauer, Mukhran Khundadze, Andrea Mirecki, Sara Mahmoud Kamel, Mohamed A Elmonem, Ehsan Ghayoor Karimiani, Yalda Jamshidi, Amaka C Offiah, Alexander M Rossor, Ilhem Ben Youssef-Turki, Christian A Hübner, Pinki Munot, Mary M Reilly, André E X Brown, Sara Nagy, and Henry Houlden. Rtn2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity. Brain, 147:2334-2343, Mar 2024. URL: https://doi.org/10.1093/brain/awae091, doi:10.1093/brain/awae091. This article has 9 citations and is from a highest quality peer-reviewed journal.

  3. (parmar2024geneticsofinherited pages 3-3): Jevin M. Parmar, Nigel G. Laing, Marina L. Kennerson, and Gianina Ravenscroft. Genetics of inherited peripheral neuropathies and the next frontier: looking backwards to progress forwards. Journal of Neurology, Neurosurgery & Psychiatry, 95:992-1001, May 2024. URL: https://doi.org/10.1136/jnnp-2024-333436, doi:10.1136/jnnp-2024-333436. This article has 21 citations.

  4. (zambon2023earlyonsethereditary pages 1-1): Alberto A Zambon, Veronica Pini, Luca Bosco, Yuri M Falzone, Pinki Munot, Francesco Muntoni, and Stefano C Previtali. Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases. Brain, 146:806-822, Nov 2023. URL: https://doi.org/10.1093/brain/awac452, doi:10.1093/brain/awac452. This article has 36 citations and is from a highest quality peer-reviewed journal.

  5. (benarroch2024the2024version pages 28-29): Louise Benarroch, Gisèle Bonne, François Rivier, and Dalil Hamroun. The 2024 version of the gene table of neuromuscular disorders (nuclear genome). Jan 2024. URL: https://doi.org/10.1016/j.nmd.2023.12.007, doi:10.1016/j.nmd.2023.12.007. This article has 34 citations and is from a peer-reviewed journal.

  6. (zambon2023earlyonsethereditary pages 3-4): Alberto A Zambon, Veronica Pini, Luca Bosco, Yuri M Falzone, Pinki Munot, Francesco Muntoni, and Stefano C Previtali. Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases. Brain, 146:806-822, Nov 2023. URL: https://doi.org/10.1093/brain/awac452, doi:10.1093/brain/awac452. This article has 36 citations and is from a highest quality peer-reviewed journal.

  7. (benarroch2024the2024version pages 37-38): Louise Benarroch, Gisèle Bonne, François Rivier, and Dalil Hamroun. The 2024 version of the gene table of neuromuscular disorders (nuclear genome). Jan 2024. URL: https://doi.org/10.1016/j.nmd.2023.12.007, doi:10.1016/j.nmd.2023.12.007. This article has 34 citations and is from a peer-reviewed journal.

  8. (benarroch2023the2023version pages 27-28): Louise Benarroch, Gisèle Bonne, François Rivier, and Dalil Hamroun. The 2023 version of the gene table of neuromuscular disorders (nuclear genome). Neuromuscular Disorders, 33:76-117, Jan 2023. URL: https://doi.org/10.1016/j.nmd.2022.12.002, doi:10.1016/j.nmd.2022.12.002. This article has 43 citations and is from a peer-reviewed journal.

  9. (wu2022geneticspectrumin pages 1-2): Chengsi Wu, Haijie Xiang, Ran Chen, Yilei Zheng, Min Zhu, Shuyun Chen, Yanyan Yu, Yun Peng, Yaqing Yu, Jianwen Deng, Meihong Zhou, and Daojun Hong. Genetic spectrum in a cohort of patients with distal hereditary motor neuropathy. Annals of Clinical and Translational Neurology, 9:633-643, Mar 2022. URL: https://doi.org/10.1002/acn3.51543, doi:10.1002/acn3.51543. This article has 21 citations and is from a peer-reviewed journal.

  10. (frasquet2021distalhereditarymotor pages 2-3): Marina Frasquet, Ricard Rojas‐García, Herminia Argente‐Escrig, Juan Francisco Vázquez‐Costa, Nuria Muelas, Juan Jesús Vílchez, Rafael Sivera, Elvira Millet, Marisa Barreiro, Jordi Díaz‐Manera, Janina Turon‐Sans, Elena Cortés‐Vicente, Luis Querol, Laura Ramírez‐Jiménez, Dolores Martínez‐Rubio, Ana Sánchez‐Monteagudo, Carmen Espinós, Teresa Sevilla, and Vincenzo Lupo. Distal hereditary motor neuropathies: mutation spectrum and genotype–phenotype correlation. Jan 2021. URL: https://doi.org/10.1111/ene.14700, doi:10.1111/ene.14700. This article has 75 citations and is from a domain leading peer-reviewed journal.

  11. (jiang2023casereporta pages 1-2): Nan Jiang, Rocio Vazquez Do Campo, and Mohamed Kazamel. Case report: a novel homozygous histidine triad nucleotide-binding protein 1 mutation featuring distal hereditary motor-predominant neuropathy with rimmed vacuoles. Frontiers in Neurology, Feb 2023. URL: https://doi.org/10.3389/fneur.2023.1007051, doi:10.3389/fneur.2023.1007051. This article has 3 citations and is from a peer-reviewed journal.

  12. (zhang2024anovelvariant pages 1-2): Bentuo Zhang, Qiang Gang, Lingchao Meng, Zhenyu Li, Xujun Chu, Haohao Wu, Junsu Yang, Baogang Huang, and Kang Du. A novel variant of biallelic mme gene associated with autosomal recessive late-onset distal hereditary motor neuropathy in chinese families. BMC Medical Genomics, Sep 2024. URL: https://doi.org/10.1186/s12920-024-01996-3, doi:10.1186/s12920-024-01996-3. This article has 0 citations and is from a peer-reviewed journal.

  13. (liu2021clinicalandgenetic pages 6-8): Xiaoxuan Liu, Ji He, Mubalake Yilihamu, Xiaohui Duan, and Dongsheng Fan. Clinical and genetic features of biallelic mutations in sord in a series of chinese patients with charcot-marie-tooth and distal hereditary motor neuropathy. Frontiers in Neurology, Nov 2021. URL: https://doi.org/10.3389/fneur.2021.733926, doi:10.3389/fneur.2021.733926. This article has 25 citations and is from a peer-reviewed journal.

  14. (zambon2023earlyonsethereditary pages 4-5): Alberto A Zambon, Veronica Pini, Luca Bosco, Yuri M Falzone, Pinki Munot, Francesco Muntoni, and Stefano C Previtali. Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases. Brain, 146:806-822, Nov 2023. URL: https://doi.org/10.1093/brain/awac452, doi:10.1093/brain/awac452. This article has 36 citations and is from a highest quality peer-reviewed journal.

  15. (zhang2024anovelvariant pages 2-4): Bentuo Zhang, Qiang Gang, Lingchao Meng, Zhenyu Li, Xujun Chu, Haohao Wu, Junsu Yang, Baogang Huang, and Kang Du. A novel variant of biallelic mme gene associated with autosomal recessive late-onset distal hereditary motor neuropathy in chinese families. BMC Medical Genomics, Sep 2024. URL: https://doi.org/10.1186/s12920-024-01996-3, doi:10.1186/s12920-024-01996-3. This article has 0 citations and is from a peer-reviewed journal.

  16. (liu2021clinicalandgenetic pages 3-4): Xiaoxuan Liu, Ji He, Mubalake Yilihamu, Xiaohui Duan, and Dongsheng Fan. Clinical and genetic features of biallelic mutations in sord in a series of chinese patients with charcot-marie-tooth and distal hereditary motor neuropathy. Frontiers in Neurology, Nov 2021. URL: https://doi.org/10.3389/fneur.2021.733926, doi:10.3389/fneur.2021.733926. This article has 25 citations and is from a peer-reviewed journal.

  17. (maroofian2024rtn2deficiencyresults pages 4-5): Reza Maroofian, Payam Sarraf, Thomas J O’Brien, Mona Kamel, Arman Cakar, Nour Elkhateeb, Tracy Lau, Siddaramappa Jagdish Patil, Christopher J Record, Alejandro Horga, Miriam Essid, Laila Selim, Hanene Benrhouma, Thouraya Ben Younes, Giovanni Zifarelli, Alistair T Pagnamenta, Peter Bauer, Mukhran Khundadze, Andrea Mirecki, Sara Mahmoud Kamel, Mohamed A Elmonem, Ehsan Ghayoor Karimiani, Yalda Jamshidi, Amaka C Offiah, Alexander M Rossor, Ilhem Ben Youssef-Turki, Christian A Hübner, Pinki Munot, Mary M Reilly, André E X Brown, Sara Nagy, and Henry Houlden. Rtn2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity. Brain, 147:2334-2343, Mar 2024. URL: https://doi.org/10.1093/brain/awae091, doi:10.1093/brain/awae091. This article has 9 citations and is from a highest quality peer-reviewed journal.

  18. (jiang2023casereporta pages 3-5): Nan Jiang, Rocio Vazquez Do Campo, and Mohamed Kazamel. Case report: a novel homozygous histidine triad nucleotide-binding protein 1 mutation featuring distal hereditary motor-predominant neuropathy with rimmed vacuoles. Frontiers in Neurology, Feb 2023. URL: https://doi.org/10.3389/fneur.2023.1007051, doi:10.3389/fneur.2023.1007051. This article has 3 citations and is from a peer-reviewed journal.

  19. (liu2021clinicalandgenetic pages 1-3): Xiaoxuan Liu, Ji He, Mubalake Yilihamu, Xiaohui Duan, and Dongsheng Fan. Clinical and genetic features of biallelic mutations in sord in a series of chinese patients with charcot-marie-tooth and distal hereditary motor neuropathy. Frontiers in Neurology, Nov 2021. URL: https://doi.org/10.3389/fneur.2021.733926, doi:10.3389/fneur.2021.733926. This article has 25 citations and is from a peer-reviewed journal.

  20. (maroofian2024rtn2deficiencyresults media d5aef6a5): Reza Maroofian, Payam Sarraf, Thomas J O’Brien, Mona Kamel, Arman Cakar, Nour Elkhateeb, Tracy Lau, Siddaramappa Jagdish Patil, Christopher J Record, Alejandro Horga, Miriam Essid, Laila Selim, Hanene Benrhouma, Thouraya Ben Younes, Giovanni Zifarelli, Alistair T Pagnamenta, Peter Bauer, Mukhran Khundadze, Andrea Mirecki, Sara Mahmoud Kamel, Mohamed A Elmonem, Ehsan Ghayoor Karimiani, Yalda Jamshidi, Amaka C Offiah, Alexander M Rossor, Ilhem Ben Youssef-Turki, Christian A Hübner, Pinki Munot, Mary M Reilly, André E X Brown, Sara Nagy, and Henry Houlden. Rtn2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity. Brain, 147:2334-2343, Mar 2024. URL: https://doi.org/10.1093/brain/awae091, doi:10.1093/brain/awae091. This article has 9 citations and is from a highest quality peer-reviewed journal.

  21. (liu2021clinicalandgenetic pages 4-6): Xiaoxuan Liu, Ji He, Mubalake Yilihamu, Xiaohui Duan, and Dongsheng Fan. Clinical and genetic features of biallelic mutations in sord in a series of chinese patients with charcot-marie-tooth and distal hereditary motor neuropathy. Frontiers in Neurology, Nov 2021. URL: https://doi.org/10.3389/fneur.2021.733926, doi:10.3389/fneur.2021.733926. This article has 25 citations and is from a peer-reviewed journal.

  22. (senderek2020thegeneticlandscape pages 36-38): Jan Senderek, Petra Lassuthova, Dagmara Kabzińska, Lisa Abreu, Jonathan Baets, Christian Beetz, Geir J. Braathen, David Brenner, Joline Dalton, Lois Dankwa, Tine Deconinck, Peter De Jonghe, Bianca Dräger, Katja Eggermann, Melina Ellis, Carina Fischer, Tanya Stojkovic, David N. Herrmann, Rita Horvath, Helle Høyer, Stephan Iglseder, Marina Kennerson, Katharina Kinslechner, Jennefer N. Kohler, Ingo Kurth, Nigel G. Laing, Phillipa J. Lamont, Löscher Wolfgang N., Albert Ludolph, Wilson Marques, Garth Nicholson, Royston Ong, Susanne Petri, Gianina Ravenscroft, Adriana Rebelo, Giulia Ricci, Sabine Rudnik-Schöneborn, Anja Schirmacher, Beate Schlotter-Weigel, Ludger Schoels, Rebecca Schüle, Matthis Synofzik, Bruno Francou, Tim M. Strom, Johannes Wagner, David Walk, Julia Wanschitz, Daniela Weinmann, Jochen Weishaupt, Manuela Wiessner, Reinhard Windhager, Peter Young, Stephan Züchner, Stefan Toegel, Pavel Seeman, Andrzej Kochański, and Michaela Auer-Grumbach. The genetic landscape of axonal neuropathies in the middle-aged and elderly. Neurology, Dec 2020. URL: https://doi.org/10.1212/wnl.0000000000011132, doi:10.1212/wnl.0000000000011132. This article has 36 citations and is from a highest quality peer-reviewed journal.

  23. (maroofian2024rtn2deficiencyresults pages 5-6): Reza Maroofian, Payam Sarraf, Thomas J O’Brien, Mona Kamel, Arman Cakar, Nour Elkhateeb, Tracy Lau, Siddaramappa Jagdish Patil, Christopher J Record, Alejandro Horga, Miriam Essid, Laila Selim, Hanene Benrhouma, Thouraya Ben Younes, Giovanni Zifarelli, Alistair T Pagnamenta, Peter Bauer, Mukhran Khundadze, Andrea Mirecki, Sara Mahmoud Kamel, Mohamed A Elmonem, Ehsan Ghayoor Karimiani, Yalda Jamshidi, Amaka C Offiah, Alexander M Rossor, Ilhem Ben Youssef-Turki, Christian A Hübner, Pinki Munot, Mary M Reilly, André E X Brown, Sara Nagy, and Henry Houlden. Rtn2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity. Brain, 147:2334-2343, Mar 2024. URL: https://doi.org/10.1093/brain/awae091, doi:10.1093/brain/awae091. This article has 9 citations and is from a highest quality peer-reviewed journal.

  24. (frasquet2021distalhereditarymotor pages 1-2): Marina Frasquet, Ricard Rojas‐García, Herminia Argente‐Escrig, Juan Francisco Vázquez‐Costa, Nuria Muelas, Juan Jesús Vílchez, Rafael Sivera, Elvira Millet, Marisa Barreiro, Jordi Díaz‐Manera, Janina Turon‐Sans, Elena Cortés‐Vicente, Luis Querol, Laura Ramírez‐Jiménez, Dolores Martínez‐Rubio, Ana Sánchez‐Monteagudo, Carmen Espinós, Teresa Sevilla, and Vincenzo Lupo. Distal hereditary motor neuropathies: mutation spectrum and genotype–phenotype correlation. Jan 2021. URL: https://doi.org/10.1111/ene.14700, doi:10.1111/ene.14700. This article has 75 citations and is from a domain leading peer-reviewed journal.

  25. (rudnikschoneborn2020charcotmarietoothdiseaseand pages 2-3): Sabine Rudnik-Schöneborn, Michaela Auer-Grumbach, and Jan Senderek. Charcot-marie-tooth disease and hereditary motor neuropathies – update 2020. Medizinische Genetik, 32:207-219, Sep 2020. URL: https://doi.org/10.1515/medgen-2020-2038, doi:10.1515/medgen-2020-2038. This article has 39 citations.

  26. (rudnikschoneborn2020charcotmarietoothdiseaseand pages 1-2): Sabine Rudnik-Schöneborn, Michaela Auer-Grumbach, and Jan Senderek. Charcot-marie-tooth disease and hereditary motor neuropathies – update 2020. Medizinische Genetik, 32:207-219, Sep 2020. URL: https://doi.org/10.1515/medgen-2020-2038, doi:10.1515/medgen-2020-2038. This article has 39 citations.

  27. (wu2022geneticspectrumin pages 6-8): Chengsi Wu, Haijie Xiang, Ran Chen, Yilei Zheng, Min Zhu, Shuyun Chen, Yanyan Yu, Yun Peng, Yaqing Yu, Jianwen Deng, Meihong Zhou, and Daojun Hong. Genetic spectrum in a cohort of patients with distal hereditary motor neuropathy. Annals of Clinical and Translational Neurology, 9:633-643, Mar 2022. URL: https://doi.org/10.1002/acn3.51543, doi:10.1002/acn3.51543. This article has 21 citations and is from a peer-reviewed journal.

  28. (parmar2024geneticsofinherited pages 1-2): Jevin M. Parmar, Nigel G. Laing, Marina L. Kennerson, and Gianina Ravenscroft. Genetics of inherited peripheral neuropathies and the next frontier: looking backwards to progress forwards. Journal of Neurology, Neurosurgery & Psychiatry, 95:992-1001, May 2024. URL: https://doi.org/10.1136/jnnp-2024-333436, doi:10.1136/jnnp-2024-333436. This article has 21 citations.

  29. (maroofian2024rtn2deficiencyresults pages 2-4): Reza Maroofian, Payam Sarraf, Thomas J O’Brien, Mona Kamel, Arman Cakar, Nour Elkhateeb, Tracy Lau, Siddaramappa Jagdish Patil, Christopher J Record, Alejandro Horga, Miriam Essid, Laila Selim, Hanene Benrhouma, Thouraya Ben Younes, Giovanni Zifarelli, Alistair T Pagnamenta, Peter Bauer, Mukhran Khundadze, Andrea Mirecki, Sara Mahmoud Kamel, Mohamed A Elmonem, Ehsan Ghayoor Karimiani, Yalda Jamshidi, Amaka C Offiah, Alexander M Rossor, Ilhem Ben Youssef-Turki, Christian A Hübner, Pinki Munot, Mary M Reilly, André E X Brown, Sara Nagy, and Henry Houlden. Rtn2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity. Brain, 147:2334-2343, Mar 2024. URL: https://doi.org/10.1093/brain/awae091, doi:10.1093/brain/awae091. This article has 9 citations and is from a highest quality peer-reviewed journal.

  30. (maroofian2024rtn2deficiencyresults media ce36ef66): Reza Maroofian, Payam Sarraf, Thomas J O’Brien, Mona Kamel, Arman Cakar, Nour Elkhateeb, Tracy Lau, Siddaramappa Jagdish Patil, Christopher J Record, Alejandro Horga, Miriam Essid, Laila Selim, Hanene Benrhouma, Thouraya Ben Younes, Giovanni Zifarelli, Alistair T Pagnamenta, Peter Bauer, Mukhran Khundadze, Andrea Mirecki, Sara Mahmoud Kamel, Mohamed A Elmonem, Ehsan Ghayoor Karimiani, Yalda Jamshidi, Amaka C Offiah, Alexander M Rossor, Ilhem Ben Youssef-Turki, Christian A Hübner, Pinki Munot, Mary M Reilly, André E X Brown, Sara Nagy, and Henry Houlden. Rtn2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity. Brain, 147:2334-2343, Mar 2024. URL: https://doi.org/10.1093/brain/awae091, doi:10.1093/brain/awae091. This article has 9 citations and is from a highest quality peer-reviewed journal.

  31. (maroofian2024rtn2deficiencyresults media ff422701): Reza Maroofian, Payam Sarraf, Thomas J O’Brien, Mona Kamel, Arman Cakar, Nour Elkhateeb, Tracy Lau, Siddaramappa Jagdish Patil, Christopher J Record, Alejandro Horga, Miriam Essid, Laila Selim, Hanene Benrhouma, Thouraya Ben Younes, Giovanni Zifarelli, Alistair T Pagnamenta, Peter Bauer, Mukhran Khundadze, Andrea Mirecki, Sara Mahmoud Kamel, Mohamed A Elmonem, Ehsan Ghayoor Karimiani, Yalda Jamshidi, Amaka C Offiah, Alexander M Rossor, Ilhem Ben Youssef-Turki, Christian A Hübner, Pinki Munot, Mary M Reilly, André E X Brown, Sara Nagy, and Henry Houlden. Rtn2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity. Brain, 147:2334-2343, Mar 2024. URL: https://doi.org/10.1093/brain/awae091, doi:10.1093/brain/awae091. This article has 9 citations and is from a highest quality peer-reviewed journal.

  32. (maroofian2024rtn2deficiencyresults pages 6-8): Reza Maroofian, Payam Sarraf, Thomas J O’Brien, Mona Kamel, Arman Cakar, Nour Elkhateeb, Tracy Lau, Siddaramappa Jagdish Patil, Christopher J Record, Alejandro Horga, Miriam Essid, Laila Selim, Hanene Benrhouma, Thouraya Ben Younes, Giovanni Zifarelli, Alistair T Pagnamenta, Peter Bauer, Mukhran Khundadze, Andrea Mirecki, Sara Mahmoud Kamel, Mohamed A Elmonem, Ehsan Ghayoor Karimiani, Yalda Jamshidi, Amaka C Offiah, Alexander M Rossor, Ilhem Ben Youssef-Turki, Christian A Hübner, Pinki Munot, Mary M Reilly, André E X Brown, Sara Nagy, and Henry Houlden. Rtn2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity. Brain, 147:2334-2343, Mar 2024. URL: https://doi.org/10.1093/brain/awae091, doi:10.1093/brain/awae091. This article has 9 citations and is from a highest quality peer-reviewed journal.

  33. (zambon2023earlyonsethereditary pages 5-5): Alberto A Zambon, Veronica Pini, Luca Bosco, Yuri M Falzone, Pinki Munot, Francesco Muntoni, and Stefano C Previtali. Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases. Brain, 146:806-822, Nov 2023. URL: https://doi.org/10.1093/brain/awac452, doi:10.1093/brain/awac452. This article has 36 citations and is from a highest quality peer-reviewed journal.

  34. (wu2022geneticspectrumin pages 2-4): Chengsi Wu, Haijie Xiang, Ran Chen, Yilei Zheng, Min Zhu, Shuyun Chen, Yanyan Yu, Yun Peng, Yaqing Yu, Jianwen Deng, Meihong Zhou, and Daojun Hong. Genetic spectrum in a cohort of patients with distal hereditary motor neuropathy. Annals of Clinical and Translational Neurology, 9:633-643, Mar 2022. URL: https://doi.org/10.1002/acn3.51543, doi:10.1002/acn3.51543. This article has 21 citations and is from a peer-reviewed journal.

  35. (parmar2024geneticsofinherited pages 3-4): Jevin M. Parmar, Nigel G. Laing, Marina L. Kennerson, and Gianina Ravenscroft. Genetics of inherited peripheral neuropathies and the next frontier: looking backwards to progress forwards. Journal of Neurology, Neurosurgery & Psychiatry, 95:992-1001, May 2024. URL: https://doi.org/10.1136/jnnp-2024-333436, doi:10.1136/jnnp-2024-333436. This article has 21 citations.

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