Merosin deficient congenital muscular dystrophy: genes and variants
Merosin deficient congenital muscular dystrophy is linked to 1 analyzed protein (LAMA2). 9 DNA variants are known to cause it; 112 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 Merosin deficient congenital muscular dystrophy
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.
9 disease-causing and 112 uncertain variants in LAMA2 are linked to Merosin deficient congenital muscular dystrophy.
Known disease-causing variants in Merosin deficient congenital muscular dystrophy
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| LAMA2 C1079R | 1079 | Laminin EGF-like 12 | Disease-causing (★★) |
| LAMA2 M1T | 1 | Disease-causing (★★) | |
| LAMA2 H2627Q | 2627 | Laminin G-like 3 | Disease-causing (★★) |
| LAMA2 R1508K | 1508 | Laminin EGF-like 16 | Disease-causing (★★) |
| LAMA2 G284R | 284 | Laminin N-terminal | Disease-causing (★) |
| LAMA2 L243P | 243 | Laminin N-terminal | Disease-causing (★) |
| LAMA2 T821P | 821 | Laminin EGF-like 7 | Disease-causing |
| LAMA2 E722K | 722 | Laminin IV type A 1 | Disease-causing |
| LAMA2 I2761T | 2761 | Disease-causing |
Which prediction tools work for Merosin deficient congenital muscular dystrophy
How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).
- PolyPhen-2: 70 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- SIFT: 68 out of 100
Same protein, different disease
- LAMA2-related muscular dystrophy is also caused by LAMA2 variants; they fall mostly in different places as the Merosin deficient congenital muscular dystrophy variants (11 disease-causing).
Diseases related to Merosin deficient congenital muscular dystrophy
- Congenital muscular dystrophy due to LMNA mutation, also linked to LAMA2
- LAMA2-related muscular dystrophy, also linked to LAMA2
- Muscular dystrophy, also linked to LAMA2
- Muscular dystrophy, limb-girdle, autosomal recessive 23, also linked to LAMA2
Frequently asked questions
Which genes are linked to Merosin deficient congenital muscular dystrophy?
In CATVariant, Merosin deficient congenital muscular dystrophy is linked to 1 analyzed protein: LAMA2 (Laminin subunit alpha-2).
How many genetic variants are linked to Merosin deficient congenital muscular dystrophy?
128 variants: 9 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 112 are of uncertain significance or have conflicting reports.
Which uncertain variants in Merosin deficient congenital muscular dystrophy 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 Merosin deficient congenital muscular dystrophy?
Among tools not trained on clinical labels, SIFT separates this disease's known disease-causing variants from harmless ones best (AUROC 0.68, based on 8 disease-causing and 76 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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