Neutral Lipid Storage Myopathy (NLSM / NLSDM) — Comprehensive Disease Characteristics Report

Executive Summary

Neutral lipid storage myopathy (commonly referred to as neutral lipid storage disease with myopathy; NLSDM/NLSD‑M) is a rare autosomal recessive lipid droplet disorder caused by biallelic PNPLA2 (ATGL) loss-of-function leading to impaired intracellular triglyceride hydrolysis, accumulation of neutral lipids in multiple tissues, and progressive skeletal myopathy frequently complicated by cardiomyopathy. Cohort studies show marked phenotypic heterogeneity, long diagnostic delays, and a spectrum ranging from isolated hyperCKemia to severe cardiomyopathy. (pennisi2017neutrallipidstorage pages 1-2, zhang2019neutrallipidstorage pages 1-2, missaglia2019neutrallipidstorage pages 3-6, pennisi2017neutrallipidstorage pages 2-3)

A compact curation-ready summary table is provided below.

Table: This table condenses the main knowledge-base fields for Neutral Lipid Storage Myopathy, including identifiers, genetics, hallmark phenotypes, diagnostics, variant hotspots, and current management/trial information. It is useful as a quick-reference scaffold for structured disease curation.

1. Disease Information

1.1 Definition and overview

NLSDM/NLSM is part of the broader group “neutral lipid storage diseases” and is characterized by excessive, non‑lysosomal accumulation of neutral lipids (primarily triacylglycerol) in multiple tissues, with prominent skeletal muscle involvement and common cardiac involvement. (pennisi2017neutrallipidstorage pages 1-2, missaglia2019neutrallipidstorage pages 3-6)

A key diagnostic hallmark is Jordan anomaly (lipid vacuoles/droplets in leukocytes). (pennisi2017neutrallipidstorage pages 1-2, pennisi2017neutrallipidstorage pages 2-3)

1.2 Key identifiers

• MONDO: MONDO_0012545 (“neutral lipid storage myopathy”) (OpenTargets Search: Neutral lipid storage myopathy)
• OMIM/MIM: #610717 (zhang2019neutrallipidstorage pages 1-2, wang2024dilatedcardiomyopathycaused pages 1-2)

Not found in retrieved full-text evidence: Orphanet code, MeSH ID, ICD‑10/ICD‑11 code (no explicit codes were present in the retrieved articles/trial records). (pennisi2017neutrallipidstorage pages 1-2, zhang2019neutrallipidstorage pages 1-2)

1.3 Synonyms / alternative names

• Neutral lipid storage disease with myopathy (NLSDM; NLSD‑M) (pennisi2017neutrallipidstorage pages 1-2, landim2023neutrallipidstorage pages 1-2)
• Neutral lipid storage myopathy (NLSM; sometimes used interchangeably) (astrea2013clinicalmolecularand pages 58-64)

1.4 Evidence source type

The evidence base is largely aggregated disease-level resources (reviews; multicenter cohorts) plus individual case reports/series. (zhang2019neutrallipidstorage pages 1-2, missaglia2019neutrallipidstorage pages 3-6, pennisi2017neutrallipidstorage pages 2-3)

2. Etiology

2.1 Disease causal factors

Genetic cause (primary): biallelic pathogenic variants in PNPLA2, encoding adipose triglyceride lipase (ATGL), causing deficient ATGL activity and impaired triglyceride hydrolysis. (wang2024dilatedcardiomyopathycaused pages 1-2, missaglia2019neutrallipidstorage pages 3-6)

Related condition (important distinction): ABHD5/CGI‑58 variants cause the related neutral lipid storage disease with ichthyosis (Chanarin–Dorfman syndrome), not NLSDM. (pennisi2017neutrallipidstorage pages 1-2, missaglia2019neutrallipidstorage pages 6-8)

2.2 Risk factors

• Genetic: autosomal recessive inheritance; consanguinity can increase the chance of homozygosity (13/45 in a Chinese cohort had consanguineous parents). (zhang2019neutrallipidstorage pages 1-2)
• Potential modifiers: A large Chinese cohort found phenotype not strongly predicted by PNPLA2 mutation type and suggested “multiple environmental risk factors” may contribute to phenotype variability, but specific environmental modifiers were not defined. (zhang2019neutrallipidstorage pages 1-2, zhang2019neutrallipidstorage pages 6-9)

2.3 Protective factors

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

2.4 Gene–environment interaction

Direct gene–environment interaction evidence was not identified in the retrieved texts; however, genotype–phenotype variability suggests modifier effects (genetic/epigenetic and/or environmental). (zhang2019neutrallipidstorage pages 1-2, pennisi2017neutrallipidstorage pages 1-2)

3. Phenotypes

3.1 Core skeletal muscle phenotypes

Phenotype type: symptoms/signs + lab abnormalities.

• Progressive myopathy: proximal and axial weakness/atrophy; distal muscles involved in advanced stages. (pennisi2017neutrallipidstorage pages 2-3)
• Fatigue: 100% in an Italian cohort of NLSD‑M. (pennisi2017neutrallipidstorage pages 2-3)
• Myalgia/cramps: 50% in the same cohort. (pennisi2017neutrallipidstorage pages 2-3)
• Muscle atrophy: 8/15 in the same cohort. (pennisi2017neutrallipidstorage pages 2-3)

Suggested HPO terms (examples): - Proximal muscle weakness (HP:0003701) - Muscle atrophy (HP:0003202) - Fatigue (HP:0012378) - Myalgia (HP:0003326)

3.2 Laboratory abnormalities

• HyperCKemia: CK elevated in all NLSD‑M in the Italian cohort (300–5700 U/L; ~1000 average). (pennisi2017neutrallipidstorage pages 2-3)

Suggested HPO term: Elevated creatine kinase (HP:0003236)

3.3 Cardiac involvement

• Cardiac involvement is frequent but variable. In a review summarizing reported cases, cardiac dysfunction occurred in ~40% (22/55). (missaglia2019neutrallipidstorage pages 3-6)
• A 2024 review/case report notes cardiac involvement 40–50% and that cardiomyopathy can mimic dilated or hypertrophic cardiomyopathy. (wang2024dilatedcardiomyopathycaused pages 1-2)
• In the 45-patient Chinese cohort, phenotypes included pure cardiomyopathy 4/45 and combined skeletal + cardiomyopathy 21/45. (zhang2019neutrallipidstorage pages 1-2)

Suggested HPO terms: Cardiomyopathy (HP:0001638), Dilated cardiomyopathy (HP:0001644), Hypertrophic cardiomyopathy (HP:0001639), Arrhythmia (HP:0011675)

3.4 Liver/metabolic and other features

• Liver involvement in NLSDM was reported in ~20% (mainly hepatomegaly) in one review. (missaglia2019neutrallipidstorage pages 3-6)
• In an Italian NLSD‑M cohort: mild hyperglycaemia in 4/15 and triglyceride abnormalities in 2/15. (pennisi2017neutrallipidstorage pages 2-3)
• Hearing loss, cataract, diabetes appear in subsets (e.g., reported in cohort/case descriptions). (pennisi2017neutrallipidstorage pages 7-8, faedo2026casereporta pages 1-2)

Suggested HPO terms: Hepatomegaly (HP:0002240), Diabetes mellitus (HP:0000819), Sensorineural hearing impairment (HP:0000407), Cataract (HP:0000518)

3.5 Phenotype distributions (cohort-based)

A multicenter Chinese cohort classified phenotypes (n=45): - Asymptomatic hyperCKemia: 2/45 (~4.4%) - Pure skeletal myopathy: 18/45 (~40.0%) - Pure cardiomyopathy: 4/45 (~8.9%) - Combined skeletal + cardiomyopathy: 21/45 (~46.7%) (zhang2019neutrallipidstorage pages 1-2)

3.6 Quality of life impact

Long diagnostic delays (mean ~16.75 years) and progressive loss of ambulation in a subset imply substantial functional impact; formal QoL instruments (e.g., SF‑36/EQ‑5D) were not identified in retrieved evidence. (pennisi2017neutrallipidstorage pages 2-3)

4. Genetic / Molecular Information

4.1 Causal gene(s)

• PNPLA2 (ATGL) is the causal gene for NLSDM. (missaglia2019neutrallipidstorage pages 3-6)

Related gene in differential context: ABHD5/CGI‑58 is a co-activator of ATGL and is causal for NLSD with ichthyosis (not NLSDM). (missaglia2019neutrallipidstorage pages 6-8)

4.2 Pathogenic variant spectrum

• In a 2019 review of genetically characterized cases: 39 distinct PNPLA2 (ATGL) mutations among 55 patients; 25/39 (64%) truncating, 13/39 (33%) missense, and 1 predicted to abrogate expression. (missaglia2019neutrallipidstorage pages 3-6)
• A large Chinese cohort identified 23 mutations: 11 point mutations, 8 deletions, 4 insertions. (zhang2019neutrallipidstorage pages 1-2)

Recurrent/hotspot variant in cohorts: - c.757+1G>T: in the Chinese cohort, 24/80 alleles (30.0%); also highlighted as recurrent in cardiomyopathy-focused literature synthesis. (wang2024dilatedcardiomyopathycaused pages 5-6, zhang2019neutrallipidstorage pages 6-9)

Variant classes: missense, frameshift, splice, insertions/deletions are all reported. (wang2024dilatedcardiomyopathycaused pages 5-6)

Somatic vs germline: evidence supports germline inheritance (AR); somatic involvement not reported. (wang2024dilatedcardiomyopathycaused pages 2-4)

4.3 Modifier genes / epigenetics

Direct modifier genes were not identified in the retrieved evidence; multiple sources emphasize genotype–phenotype heterogeneity consistent with modifier influences. (zhang2019neutrallipidstorage pages 1-2, pennisi2017neutrallipidstorage pages 1-2)

5. Environmental Information

No specific toxins, lifestyle triggers, or infectious agents were identified as causal in the retrieved NLSDM-focused sources. The literature suggests environmental/modifying factors may influence phenotype but does not specify actionable exposures. (zhang2019neutrallipidstorage pages 1-2)

6. Mechanism / Pathophysiology

6.1 Key concepts: lipid droplet lipolysis machinery

ATGL (PNPLA2) catalyzes the first (rate-limiting) step of TAG hydrolysis on lipid droplets and is activated by ABHD5/CGI‑58; downstream lipases (HSL, MGL) complete lipolysis. (missaglia2019neutrallipidstorage pages 6-8)

Visual evidence: A lipid droplet schematic showing ATGL activation by ABHD5 and key regulators/inhibitors is available (Missaglia et al., 2019, Figure 4). (missaglia2019neutrallipidstorage media 37b46157)

6.2 Causal chain (upstream → downstream)

1. PNPLA2 loss-of-function → ATGL deficiency (upstream genetic trigger). (wang2024dilatedcardiomyopathycaused pages 1-2, missaglia2019neutrallipidstorage pages 3-6)
2. Impaired intracellular TAG hydrolysis → lipid droplet accumulation in myocytes/cardiomyocytes and other tissues. (wang2024dilatedcardiomyopathycaused pages 2-4, missaglia2019neutrallipidstorage pages 1-3)
3. Reduced FA release and lipid signaling: ATGL-derived fatty acids act as ligands/agonists for PPARα; ATGL loss produces dysfunctional PPARα signaling and altered mitochondrial programs. (kanti2022adiposetriglyceridelipase–mediated pages 1-2, wang2024dilatedcardiomyopathycaused pages 2-4)
4. Mitochondrial dysfunction: patient-derived myotubes with defective ATGL show reduced mitochondrial respiration and abnormal mitochondrial morphology/dynamics (fragmentation, reduced membrane potential), despite preserved or increased mitochondrial content markers. (gemmink2024atglmediatedlipolysisis pages 5-8)
5. Organ dysfunction: progressive skeletal myopathy and cardiomyopathy (lipotoxicity-associated). (wang2024dilatedcardiomyopathycaused pages 2-4)

6.3 Cellular processes and pathways (ontology suggestions)

• GO biological processes: triglyceride catabolic process (GO:0019433); lipid droplet organization (GO:0034389); fatty acid beta-oxidation (GO:0006635); mitochondrial organization (GO:0007005); regulation of PPAR signaling (broadly captured under regulation of transcription by nuclear receptor; context-dependent). (kanti2022adiposetriglyceridelipase–mediated pages 1-2, missaglia2019neutrallipidstorage pages 6-8)
• GO cellular components: lipid droplet (GO:0005811); mitochondrion (GO:0005739). (missaglia2019neutrallipidstorage pages 6-8)

6.4 Model systems / experimental evidence

• Mouse genetic evidence: ATGL (Pnpla2) deletion produces triglyceride accumulation and mitochondrial/functional defects in multiple tissues; in bronchiolar regeneration experiments, a PPARα agonist (WY14643) rescued ultrastructure and function, illustrating the ATGL→PPARα→mitochondria axis. (kanti2022adiposetriglyceridelipase–mediated pages 1-2)
• Human cell models: NLSDM patient muscle-derived myotubes show lipid accumulation, impaired myogenic differentiation, and intrinsic mitochondrial dysfunction. (gemmink2024atglmediatedlipolysisis pages 5-8)

6.5 Molecular profiling / multi-omics

The strongest molecular profiling signal in retrieved evidence is mitochondrial functional phenotyping (respirometry/EM) in patient myotubes; extensive transcriptomics/proteomics/lipidomics specific to NLSDM were not captured in the retrieved full-text snippets. (gemmink2024atglmediatedlipolysisis pages 5-8)

7. Anatomical Structures Affected

7.1 Primary organs

• Skeletal muscle (UBERON:0001134) and heart (UBERON:0000948) are primary target tissues. (wang2024dilatedcardiomyopathycaused pages 1-2, pennisi2017neutrallipidstorage pages 2-3)

7.2 Tissue/cell level

• Skeletal muscle fibers (particularly type 1 fiber–predominant lipid accumulation) with type 1 atrophy and type 2 hypertrophy patterns in some series. (luan2025clinicopathologicalgeneticfeaturesof pages 4-5, luan2025clinicopathologicalgeneticfeaturesof pages 1-2)

Suggested Cell Ontology terms: skeletal muscle cell (CL:0000197); cardiomyocyte (CL:0000746).

7.3 Subcellular localization

• Cytosolic lipid droplets and mitochondria are key compartments. (missaglia2019neutrallipidstorage pages 6-8, gemmink2024atglmediatedlipolysisis pages 5-8)

8. Temporal Development

8.1 Onset

• Typical onset around early 30s / 3rd–4th decade in many reports, but can range from childhood to advanced age. (landim2023neutrallipidstorage pages 1-2, zhang2019neutrallipidstorage pages 6-9, pennisi2017neutrallipidstorage pages 2-3)

8.2 Progression

• Chronic progressive course with variable rate; long subclinical period with isolated hyperCKemia is common. (luan2025clinicopathologicalgeneticfeaturesof pages 1-2, pennisi2017neutrallipidstorage pages 2-3)

9. Inheritance and Population

9.1 Inheritance

Autosomal recessive. (wang2024dilatedcardiomyopathycaused pages 1-2, wang2024dilatedcardiomyopathycaused pages 2-4)

9.2 Epidemiology and burden statistics

True prevalence/incidence are not defined in the retrieved texts. Published case counts vary by time and review scope: - 55 genetically characterized patients in a 2019 review. (missaglia2019neutrallipidstorage pages 3-6) - Nearly 130 reported NLSDM patients with >60 PNPLA2 mutations described in a 2024 literature review. (wang2024dilatedcardiomyopathycaused pages 1-2) - “Fewer than 150 cases” and 132 patients/72 variants in a 2026 case review. (faedo2026casereporta pages 1-2)

9.3 Founder effects / geographic distribution

A large Chinese cohort identified recurrent variants (c.757+1G>T; c.245G>A; c.187+1G>A) and described them as relatively frequent in that population; detailed founder-effect analysis was not captured in retrieved snippets. (zhang2019neutrallipidstorage pages 6-9)

10. Diagnostics

10.1 Clinical tests and biomarkers

• Serum CK: elevated; can be isolated early (hyperCKemia). (pennisi2017neutrallipidstorage pages 2-3)
• Peripheral smear: Jordan anomaly (Oil Red O/Wright stain). (zhang2019neutrallipidstorage pages 1-2)

10.2 Imaging

• Skeletal muscle MRI: asymmetric and posterior-compartment predominant fatty infiltration; characteristic muscle selectivity described in the Chinese cohort. (zhang2019neutrallipidstorage pages 6-9)
• Cardiac imaging: echocardiography and cardiac MRI can identify cardiomyopathy with lipid infiltration in affected individuals. (pennisi2017neutrallipidstorage pages 5-7)

10.3 Electrophysiology

• EMG frequently myogenic; myotonic discharges reported in a subset (5/15 in one cohort). (pennisi2017neutrallipidstorage pages 7-8, luan2025clinicopathologicalgeneticfeaturesof pages 1-2)

10.4 Biopsy findings

• Muscle biopsy often shows Oil Red O–positive lipid droplets, sometimes with rimmed vacuoles; lipid droplets detected in 93% of NLSD‑M biopsies in one cohort. (pennisi2017neutrallipidstorage pages 5-7)

10.5 Genetic testing

• PNPLA2 testing via targeted sequencing or NGS panels is used for confirmation; compound heterozygous and homozygous states reported. (luan2025clinicopathologicalgeneticfeaturesof pages 1-2)

10.6 Differential diagnosis (selected)

The retrieved evidence emphasizes that NLSDM can mimic inflammatory myopathy (e.g., misdiagnosis and ineffective prednisone in a case report) and cardiomyopathy of other causes; thus lipid storage myopathies and inherited cardiomyopathies are key differentials. (shi2021casereportpnpla2 pages 1-2, wang2024dilatedcardiomyopathycaused pages 1-2)

11. Outcome / Prognosis

• In an Italian cohort (21 NLSD total; 15 NLSD‑M), mean follow-up 17.8 years and mean diagnostic delay ~16.75 years for NLSD‑M; after median 30.6 years of disease, 5/21 lost independent ambulation (4 NLSD‑M, 1 NLSD‑I); no mechanical ventilation was required in this series. (pennisi2017neutrallipidstorage pages 1-2, pennisi2017neutrallipidstorage pages 2-3)
• Cardiac disease is a major morbidity determinant; some patients have severe cardiomyopathy while others may remain without cardiac involvement (10‑year follow-up case report described severe skeletal myopathy without cardiac involvement). (missaglia2022neutrallipidstorage pages 1-2)

12. Treatment

12.1 Standard of care (supportive/dietary)

There is no established curative therapy; commonly used management includes supportive care and dietary interventions such as low-fat diet with medium-chain triglyceride (MCT) supplementation (and sometimes carnitine). (risi2025primarylipidmyopathiesa pages 16-18, missaglia2022neutrallipidstorage pages 1-2)

Real-world implementation evidence: a 10‑year follow-up case used low-fat + MCT; CK decreased but weakness progressed. (missaglia2022neutrallipidstorage pages 1-2)

MAXO suggestions: dietary fat restriction (MAXO: dietary modification—term selection may require ontology lookup); medium-chain triglyceride supplementation (MAXO: nutritional supplementation).

12.2 Pharmacotherapy / targeted approaches

• Bezafibrate (PPAR agonist strategy): ClinicalTrials.gov NCT01527318 tested bezafibrate 400 mg/day for 28 weeks in NLSDM (completed; planned enrollment 6). The trial protocol included muscle biopsy lipid quantification, in vivo 1H‑MRS, and respirometry-based mitochondrial assessment. (NCT01527318 chunk 1)

12.3 Experimental programs / registries (TGCV/NLSD spectrum)

• NCT02830763: “Safety of CNT‑02 for TGCV and NLSD‑M” (terminated; enrollment 2). (NCT01527318 chunk 1)
• NCT02918032: “International registry of NLSD/TGCV and related diseases” (recruiting; target 120). (NCT01527318 chunk 1)

12.4 Treatment response data and gaps

Robust, generalizable efficacy data for dietary or pharmacologic interventions remain limited; response may depend on whether residual ATGL function is present (complete loss of expression may predict limited benefit from MCT diet in some cases). (missaglia2022neutrallipidstorage pages 1-2)

13. Prevention

No primary prevention is currently available beyond genetic counseling/carrier testing in at-risk families. Avoidance of factors that precipitate metabolic stress (e.g., prolonged fasting/exertion in metabolic myopathy care paradigms) is suggested in lipid myopathy management reviews but was not specifically quantified for NLSDM in retrieved evidence. (risi2025primarylipidmyopathiesa pages 16-18)

14. Other Species / Natural Disease

No naturally occurring NLSDM orthologous disease in non-human species was identified in the retrieved evidence.

15. Model Organisms

• Mouse ATGL/Pnpla2 knockout models show severe tissue triglyceride accumulation and impaired mitochondrial function in multiple tissues; the ATGL→PPARα axis has been experimentally manipulated (PPARα agonist rescue in airway regeneration model). (kanti2022adiposetriglyceridelipase–mediated pages 1-2)
• Human patient-derived myotubes serve as a translational cellular model for mitochondrial dysfunction and lipid droplet accumulation in NLSDM. (gemmink2024atglmediatedlipolysisis pages 5-8)

Recent Developments (2023–2024 prioritized)

1. 2024 cardiomyopathy-focused synthesis: A 2024 Frontiers in Genetics case report + literature review emphasized NLSDM as a cause of cardiomyopathy (40–50% cardiac involvement; cardiomyopathy may mimic DCM/HCM; recurrent splice variant c.757+1G>T described). Publication date: Jul 2024; URL: https://doi.org/10.3389/fgene.2024.1415156 (wang2024dilatedcardiomyopathycaused pages 1-2, wang2024dilatedcardiomyopathycaused pages 5-6)
2. 2024 mechanistic advance in human muscle cells (preprint): Patient-derived NLSDM myotubes show intrinsic mitochondrial respiration defects and altered mitochondrial dynamics linked to ATGL dysfunction. Publication date: Nov 2024; URL: https://doi.org/10.1101/2024.10.31.621255 (gemmink2024atglmediatedlipolysisis pages 5-8)
3. 2023 diagnostic/phenotype expansion (case report): 2023 BMC Neurology case report documented Jordan anomaly and coexisting PNPLA2 + CLCN1 pathogenic variants with myotonia features. Publication date: Apr 2023; URL: https://doi.org/10.1186/s12883-023-03195-6 (landim2023neutrallipidstorage pages 1-2)

Authoritative expert interpretation (evidence-based)

Multiple cohort and review sources converge on the concept that NLSDM is best understood as a lipid droplet lipolysis disorder rather than a primary inflammatory myopathy, and that its multisystem manifestations reflect the dependence of high-energy tissues (skeletal muscle and myocardium) on regulated intracellular lipolysis for mitochondrial energy supply and lipid signaling (PPAR axis). (gemmink2024atglmediatedlipolysisis pages 5-8, kanti2022adiposetriglyceridelipase–mediated pages 1-2, shi2021casereportpnpla2 pages 1-2)

Key Data Points (for knowledge base ingestion)

• Cardiac dysfunction frequency: ~40% (22/55) (review) (missaglia2019neutrallipidstorage pages 3-6)
• Chinese cohort phenotype distribution (n=45): hyperCKemia 2; pure skeletal 18; pure cardiac 4; combined 21 (zhang2019neutrallipidstorage pages 1-2)
• Italian cohort: CK 300–5700 U/L; fatigue 100%; myalgia/cramps 50%; muscle atrophy 8/15; Jordan anomaly 100%; myotonic discharges 5/15; lipid droplets in muscle biopsy 93%; diagnostic delay ~16.75 years; loss of independent ambulation 5/21 after median 30.6 years disease duration. (pennisi2017neutrallipidstorage pages 7-8, pennisi2017neutrallipidstorage pages 5-7, pennisi2017neutrallipidstorage pages 2-3)

Limitations of this report (evidence availability)

• No Orphanet/ICD/MeSH identifiers were explicitly present in the retrieved full texts.
• Incidence/prevalence rates (population denominators) were not found in the retrieved evidence; available epidemiology is largely case-count based.
• Some 2023–2024 Neuromuscular Disorders cohort papers relevant to NLSDM were flagged as unobtainable in this run; therefore, the report emphasizes accessible cohort/review evidence plus 2023–2024 accessible sources. (wang2024dilatedcardiomyopathycaused pages 1-2, gemmink2024atglmediatedlipolysisis pages 5-8)

References

1. (pennisi2017neutrallipidstorage pages 1-2): Elena Maria Pennisi, Marcello Arca, Enrico Bertini, Claudio Bruno, Denise Cassandrini, Adele D’amico, Matteo Garibaldi, Francesca Gragnani, Lorenzo Maggi, Roberto Massa, Sara Missaglia, Lucia Morandi, Olimpia Musumeci, Elena Pegoraro, Emanuele Rastelli, Filippo Maria Santorelli, Elisabetta Tasca, Daniela Tavian, Antonio Toscano, and Corrado Angelini. Neutral lipid storage diseases: clinical/genetic features and natural history in a large cohort of italian patients. Orphanet Journal of Rare Diseases, May 2017. URL: https://doi.org/10.1186/s13023-017-0646-9, doi:10.1186/s13023-017-0646-9. This article has 79 citations and is from a peer-reviewed journal.

2. (zhang2019neutrallipidstorage pages 1-2): Wei Zhang, Bing Wen, Jun Lu, Yawen Zhao, Daojun Hong, Zhe Zhao, Cheng Zhang, Yuebei Luo, Xueliang Qi, Yingshuang Zhang, Xueqin Song, Yuying Zhao, Chongbo Zhao, Jing Hu, Huan Yang, Zhaoxia Wang, Chuanzhu Yan, and Yun Yuan. Neutral lipid storage disease with myopathy in china: a large multicentric cohort study. Orphanet Journal of Rare Diseases, Oct 2019. URL: https://doi.org/10.1186/s13023-019-1209-z, doi:10.1186/s13023-019-1209-z. This article has 30 citations and is from a peer-reviewed journal.

3. (missaglia2019neutrallipidstorage pages 3-6): Sara Missaglia, Rosalind A. Coleman, Alvaro Mordente, and Daniela Tavian. Neutral lipid storage diseases as cellular model to study lipid droplet function. Cells, 8:187, Feb 2019. URL: https://doi.org/10.3390/cells8020187, doi:10.3390/cells8020187. This article has 95 citations.

4. (pennisi2017neutrallipidstorage pages 2-3): Elena Maria Pennisi, Marcello Arca, Enrico Bertini, Claudio Bruno, Denise Cassandrini, Adele D’amico, Matteo Garibaldi, Francesca Gragnani, Lorenzo Maggi, Roberto Massa, Sara Missaglia, Lucia Morandi, Olimpia Musumeci, Elena Pegoraro, Emanuele Rastelli, Filippo Maria Santorelli, Elisabetta Tasca, Daniela Tavian, Antonio Toscano, and Corrado Angelini. Neutral lipid storage diseases: clinical/genetic features and natural history in a large cohort of italian patients. Orphanet Journal of Rare Diseases, May 2017. URL: https://doi.org/10.1186/s13023-017-0646-9, doi:10.1186/s13023-017-0646-9. This article has 79 citations and is from a peer-reviewed journal.

5. (wang2024dilatedcardiomyopathycaused pages 1-2): Shuai Wang, Sha Wu, and Daoquan Peng. Dilated cardiomyopathy caused by mutation of the pnpla2 gene: a case report and literature review. Frontiers in Genetics, Jul 2024. URL: https://doi.org/10.3389/fgene.2024.1415156, doi:10.3389/fgene.2024.1415156. This article has 5 citations and is from a peer-reviewed journal.

6. (landim2023neutrallipidstorage pages 1-2): João Igor Dantas Landim, Ian Silva Ribeiro, Eduardo Braga Oliveira, Hermany Capistrano Freitas, Lara Albuquerque Brito, Isaac Holanda Mendes Maia, Daniel Gurgel Fernandes Távora, and Cleonisio Leite Rodrigues. Neutral lipid storage disease with myopathy and myotonia associated to pathogenic variants on pnpla2 and clcn1 genes: case report. BMC Neurology, Apr 2023. URL: https://doi.org/10.1186/s12883-023-03195-6, doi:10.1186/s12883-023-03195-6. This article has 0 citations and is from a peer-reviewed journal.

7. (OpenTargets Search: Neutral lipid storage myopathy): Open Targets Query (Neutral lipid storage myopathy, 22 results). Buniello, A. et al. (2025). Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery. Nucleic Acids Research.

8. (wang2024dilatedcardiomyopathycaused pages 2-4): Shuai Wang, Sha Wu, and Daoquan Peng. Dilated cardiomyopathy caused by mutation of the pnpla2 gene: a case report and literature review. Frontiers in Genetics, Jul 2024. URL: https://doi.org/10.3389/fgene.2024.1415156, doi:10.3389/fgene.2024.1415156. This article has 5 citations and is from a peer-reviewed journal.

9. (kanti2022adiposetriglyceridelipase–mediated pages 1-2): Manu Manjunath Kanti, Isabelle Striessnig-Bina, Beatrix Irene Wieser, Silvia Schauer, Gerd Leitinger, Thomas O. Eichmann, Martina Schweiger, Margit Winkler, Elke Winter, Andrea Lana, Iris Kufferath, Leigh Matthew Marsh, Grazyna Kwapiszewska, Rudolf Zechner, Gerald Hoefler, and Paul Willibald Vesely. Adipose triglyceride lipase–mediated lipid catabolism is essential for bronchiolar regeneration. JCI Insight, May 2022. URL: https://doi.org/10.1172/jci.insight.149438, doi:10.1172/jci.insight.149438. This article has 14 citations and is from a domain leading peer-reviewed journal.

10. (missaglia2019neutrallipidstorage pages 1-3): Sara Missaglia, Rosalind A. Coleman, Alvaro Mordente, and Daniela Tavian. Neutral lipid storage diseases as cellular model to study lipid droplet function. Cells, 8:187, Feb 2019. URL: https://doi.org/10.3390/cells8020187, doi:10.3390/cells8020187. This article has 95 citations.

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