| Study (year; journal) | Population/model (human/animal/in vitro) | N | Key findings (with quantitative stats) | Relevance (diagnosis/prognosis/mechanism/treatment) | URL/DOI |
|---|---|---:|---|---|---|
| Cesar 2023; *Frontiers in Cell and Developmental Biology* | Human pediatric LMNA-related muscular dystrophy cohort (EDMD, L-CMD, LGMD1B, mild weakness) | 28 patients from 27 families | Median age 8.5 years (IQR 4–12.5); 13 EDMD, 11 L-CMD, 2 LGMD1B, 2 mild weakness. DCM developed in 6 patients; malignant arrhythmias in 5 patients (20%), 4 with concomitant DCM; arrhythmias detected by implantable loop recorder (ILR) and triggered ICD implantation. Baseline work-up included echo, 12-lead ECG, electrophysiology study, and ILR home monitoring. Early-onset EDMD had worse cardiac prognosis. (pqac-00000009, pqac-00000010, pqac-00000015) | Prognosis; cardiac surveillance; pediatric diagnosis | https://doi.org/10.3389/fcell.2023.1142937 |
| Cannie 2023; *European Heart Journal* | Human EMD variant carriers (EDMD1) with longitudinal cardiac follow-up | 38 male, 21 female carriers | Among males, 9/38 (23.7%) developed malignant ventricular arrhythmia (MVA) and 5/38 (13.2%) developed end-stage heart failure (ESHF) during median follow-up 65.0 months (IQR 24.3–109.5). No female carrier developed MVA/ESHF, but 9/21 (42.8%) developed a cardiac phenotype at median age 58.6 years (IQR 53.2–60.4). Incidence rates in male carriers with cardiac phenotype: MVA 4.8 per 100 person-years; ESHF 2.4 per 100 person-years; MVA risk similar to LMNA cardiac cohort (6.6 per 100 person-years). (pqac-00000005) | Prognosis; risk stratification; ICD/HF therapy implications | https://doi.org/10.1093/eurheartj/ehad561 |
| de las Heras 2023; *Human Molecular Genetics* | Human EDMD-spectrum patient myotubes; RNA-seq/pathway analysis | 10 patients, 7 genes; 2 controls | RNA-seq across 10 unrelated EDMD-spectrum patients with mutations in LMNA, EMD, FHL1, SUN1, SYNE1, PLPP7, TMEM214. Grouping all patients identified 1,127 differentially expressed genes (894 upregulated, 233 downregulated). Individual patients had 310–2651 upregulated and 429–2384 downregulated genes; all samples had 56–94 million paired-end reads. Pathways converged on fibrosis/ECM, metabolism, myogenesis/alternate differentiation, and splicing; patient signatures segregated into 3 subgroups. (pqac-00000013, pqac-00000014) | Mechanism; biomarker discovery; molecular stratification | https://doi.org/10.1093/hmg/ddac264 |
| Zhang 2023; *Journal of Clinical Investigation* | Mouse Net39 conditional knockout, human EDMD biopsies, stretched myoblasts | Multiple cohorts; e.g., muscle weight n=9–13/group, RNA-seq n=3/group, rescue n=3–4/group | Net39 cKO recapitulated EDMD-like muscle wasting, impaired contractility, abnormal myonuclei, and DNA damage. Bulk RNA-seq in cKO muscle showed 318 upregulated and 112 downregulated genes, with p53 signaling prominent. Human EDMD biopsies showed ~80% of small angular fibers positive for γH2A.X. AAV-Net39 rescue at 1×10^14 vg/kg (P2 facial vein) restored Net39 levels, reduced centralized nuclei and γH2A.X-positive nuclei, improved myofiber area, and extended survival in Lmna ΔK32 mice. (pqac-00000024, pqac-00000025, pqac-00000026, pqac-00000027) | Mechanism; preclinical gene therapy | https://doi.org/10.1172/JCI163333 |
| Cenni 2024; *Cells* | Human control and EDMD2 (LMNA-mutant) myoblasts under cyclic stretch | In vitro; multiple cell-line comparisons | Under 10% sinusoidal strain at 1 Hz for 4 h, desmin recruitment to the nuclear rim after stretch was 15%, 16%, and 19% in EDMD2 lines versus 55% in controls; ~35% of EDMD2 cells showed cytoplasmic desmin disorganization. About 60% of EDMD2 nuclei failed normal anisotropic reorientation and instead aligned parallel to stretch. Lamin A/C knockdown reduced desmin recruitment from ~65% to ~30%; plectin-1 recruitment and lamin A/C–SUN1 interaction were also reduced. (pqac-00000032, pqac-00000033, pqac-00000034, pqac-00000036) | Mechanotransduction; nuclear-cytoskeletal coupling | https://doi.org/10.3390/cells13020162 |
| Panicucci 2023; *Neuropediatrics* | Human pediatric EDMD1 case report | 1 | 13-year-old boy with EMD c.153dupC/p.Ser52Glufs*9, absent emerin on biopsy. Functional metrics: 6-minute walk test 409 m; North Star 28/34; pulmonary function FVC 2.7 L (76%) and FEV1 2.4 L (83%). MRI showed mild diffuse thigh involvement with preferential lower-leg involvement of tibialis anterior, extensor digitorum longus, peroneus longus, and medial gastrocnemius; 24-h Holter found rhythm abnormalities requiring β-blocker therapy. (pqac-00000028, pqac-00000029, pqac-00000030) | Diagnosis; imaging phenotype; early natural history | https://doi.org/10.1055/s-0043-1768989 |
| Valoriani 2024; *Frontiers in Nutrition* | Human EDMD supportive-care case report | 1 | 26-year-old male with LMNA c.523_537del and severe malnutrition: weight 22.5 kg, height 1.64 m, BMI 8.36 kg/m², oral intake ~500–600 kcal/day. TPN (Smofkabiven® 986 mL/day = 900 kcal non-protein + 50 g amino acids) led to +8.5 kg at 1 year with stable weight over 6 years; no PICC-related infections and no heart failure during follow-up. (pqac-00000037, pqac-00000038, pqac-00000039, pqac-00000040) | Treatment; nutrition; quality-of-life support | https://doi.org/10.3389/fnut.2024.1343548 |


*Table: This table compiles the main quantitative results from key 2023-2024 EDMD and LMNA-related studies, spanning human cohorts, mechanistic cell studies, animal models, imaging, and supportive care. It is useful for quickly locating concrete statistics relevant to diagnosis, prognosis, pathophysiology, and emerging treatment strategies.*