Neuromuscular disease caused by qualitative or quantitative defects of dystrophin: genes and variants
Neuromuscular disease caused by qualitative or quantitative defects of dystrophin is linked to 1 analyzed protein (DMD). 2 DNA variants are known to cause it; 1 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 Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
DMD: Dystrophin
Its dystrophin product mechanically links the actin cytoskeleton of muscle fibers to the extracellular matrix and stabilizes the sarcolemma during contraction. Severe loss causes Duchenne muscular dystrophy, while variants preserving partial function more often cause Becker muscular dystrophy.
2 disease-causing and 1 uncertain variants in DMD are linked to Neuromuscular disease caused by qualitative or quantitative defects of dystrophin.
Known disease-causing variants in Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| DMD K874N | 874 | Spectrin 5 | Disease-causing (★★) |
| DMD G2097V | 2097 | Spectrin 16 | Disease-causing (★★) |
Diseases related to Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
- Dilated cardiomyopathy, also linked to DMD
- Muscular dystrophy, also linked to DMD
- Familial isolated dilated cardiomyopathy, also linked to DMD
- Duchenne muscular dystrophy, also linked to DMD
- Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency, also linked to DMD
Frequently asked questions
Which genes are linked to Neuromuscular disease caused by qualitative or quantitative defects of dystrophin?
In CATVariant, Neuromuscular disease caused by qualitative or quantitative defects of dystrophin is linked to 1 analyzed protein: DMD (Dystrophin).
How many genetic variants are linked to Neuromuscular disease caused by qualitative or quantitative defects of dystrophin?
6 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 1 are of uncertain significance or have conflicting reports.
Which uncertain variants in Neuromuscular disease caused by qualitative or quantitative defects of dystrophin look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
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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