Congenital muscular dystrophy due to LMNA mutation: genes and variants
Congenital muscular dystrophy due to LMNA mutation is linked to 2 analyzed proteins (LMNA and LAMA2). 11 DNA variants are known to cause it; 45 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Congenital muscular dystrophy due to LMNA mutation
LMNA: Prelamin-A/C
The gene product produces lamins A and C, structural proteins that form the nuclear lamina beneath the inner nuclear membrane. Lamins help maintain nuclear shape and organize chromatin, and LMNA variants are associated with muscular dystrophy, cardiomyopathy, lipodystrophy, and premature-aging syndromes.
11 disease-causing and 45 uncertain variants in LMNA are linked to Congenital muscular dystrophy due to LMNA mutation.
LAMA2: Laminin subunit alpha-2
It links cells to surrounding extracellular matrix through dystroglycan and integrins. Biallelic loss-of-function variants cause LAMA2-related muscular dystrophy, ranging from severe congenital disease to later-onset limb-girdle weakness.
0 disease-causing and 0 uncertain variants in LAMA2 are linked to Congenital muscular dystrophy due to LMNA mutation.
Where Congenital muscular dystrophy due to LMNA mutation variants cluster
- LMNA IF rod (positions 31–387): 10 of 11 disease-causing changes, 1.7× more than its size predicts.
- LMNA Head (positions 1–33): 3 of 11 disease-causing changes, 5.5× more than its size predicts.
Known disease-causing variants in Congenital muscular dystrophy due to LMNA mutation
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| LMNA N39D | 39 | IF rod | Disease-causing (★★) |
| LMNA R377L | 377 | IF rod | Disease-causing (★★) |
| LMNA K32E | 32 | IF rod | Disease-causing (★★) |
| LMNA R296L | 296 | IF rod | Disease-causing (★★) |
| LMNA T27I | 27 | Head | Disease-causing (★★) |
| LMNA R249Q | 249 | IF rod | Disease-causing (★★) |
| LMNA E383K | 383 | IF rod | Disease-causing (★★) |
| LMNA M371L | 371 | IF rod | Disease-causing (★) |
| LMNA K32T | 32 | IF rod | Disease-causing |
| LMNA L380S | 380 | IF rod | Disease-causing |
| LMNA S143F | 143 | IF rod | Disease-causing |
Which prediction tools work for Congenital muscular dystrophy due to LMNA mutation
How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).
- SIFT: 81 out of 100
- PolyPhen-2: 75 out of 100 (learned from overlapping clinical labels, so this is optimistic)
Same protein, different disease
- Charcot-Marie-Tooth disease is also caused by LMNA variants; they fall mostly in different places as the Congenital muscular dystrophy due to LMNA mutation variants (130 disease-causing).
- Dilated cardiomyopathy is also caused by LMNA variants; they fall mostly in different places as the Congenital muscular dystrophy due to LMNA mutation variants (21 disease-causing).
- Familial partial lipodystrophy, Dunnigan type is also caused by LMNA variants; they fall mostly in different places as the Congenital muscular dystrophy due to LMNA mutation variants (13 disease-causing).
- Emery-Dreifuss muscular dystrophy is also caused by LMNA variants; they fall partly in the same places as the Congenital muscular dystrophy due to LMNA mutation variants (12 disease-causing).
- Hutchinson-Gilford syndrome is also caused by LMNA variants; they fall mostly in different places as the Congenital muscular dystrophy due to LMNA mutation variants (9 disease-causing).
Diseases related to Congenital muscular dystrophy due to LMNA mutation
- Muscular dystrophy, also linked to LAMA2 and LMNA
- Charcot-Marie-Tooth disease, also linked to LMNA
- Dilated cardiomyopathy, also linked to LMNA
- Bethlem myopathy, also linked to LMNA
- Primary dilated cardiomyopathy, also linked to LMNA
- Arrhythmogenic right ventricular dysplasia, also linked to LMNA
- Familial partial lipodystrophy, Dunnigan type, also linked to LMNA
- Emery-Dreifuss muscular dystrophy, also linked to LMNA
- LAMA2-related muscular dystrophy, also linked to LAMA2
- Primary familial dilated cardiomyopathy, also linked to LMNA
- Merosin deficient congenital muscular dystrophy, also linked to LAMA2
- Hutchinson-Gilford syndrome, also linked to LMNA
Frequently asked questions
Which genes are linked to Congenital muscular dystrophy due to LMNA mutation?
In CATVariant, Congenital muscular dystrophy due to LMNA mutation is linked to 2 analyzed proteins: LMNA (Prelamin-A/C) and LAMA2 (Laminin subunit alpha-2).
How many genetic variants are linked to Congenital muscular dystrophy due to LMNA mutation?
67 variants: 11 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 45 are of uncertain significance or have conflicting reports.
Which uncertain variants in Congenital muscular dystrophy due to LMNA mutation look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
Which variant effect predictor works best for Congenital muscular dystrophy due to LMNA mutation?
Among tools not trained on clinical labels, SIFT separates this disease's known disease-causing variants from harmless ones best (AUROC 0.81, based on 9 disease-causing and 78 harmless variants).
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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