Congenital myopathy with fiber type disproportion: genes and variants
Congenital myopathy with fiber type disproportion is linked to 1 analyzed protein (MYH7). 6 DNA variants are known to cause it; 58 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 myopathy with fiber type disproportion
MYH7: Myosin-7
Its beta-myosin motor converts ATP hydrolysis into force within cardiac and slow-skeletal-muscle sarcomeres. Pathogenic variants are major causes of hypertrophic and dilated cardiomyopathy and can also produce inherited skeletal myopathies.
6 disease-causing and 55 uncertain variants in MYH7 are linked to Congenital myopathy with fiber type disproportion.
Weakly linked (only a few uncertain records): RYR1.
Known disease-causing variants in Congenital myopathy with fiber type disproportion
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| MYH7 R694H | 694 | Myosin motor | Disease-causing (★★) |
| MYH7 R1500W | 1500 | Coiled coil | Disease-causing (★★) |
| MYH7 R663S | 663 | Myosin motor | Disease-causing (★★) |
| MYH7 R858C | 858 | Coiled coil | Disease-causing (★★) |
| MYH7 E930Q | 930 | Coiled coil | Disease-causing (★★) |
| MYH7 P731R | 731 | Myosin motor | Disease-causing (★) |
Same protein, different disease
- Hypertrophic cardiomyopathy is also caused by MYH7 variants; they fall mostly in different places as the Congenital myopathy with fiber type disproportion variants (239 disease-causing).
- Dilated cardiomyopathy is also caused by MYH7 variants; they fall mostly in different places as the Congenital myopathy with fiber type disproportion variants (21 disease-causing).
- Primary dilated cardiomyopathy is also caused by MYH7 variants; they fall mostly in different places as the Congenital myopathy with fiber type disproportion variants (15 disease-causing).
- Myosin storage myopathy is also caused by MYH7 variants; they fall mostly in different places as the Congenital myopathy with fiber type disproportion variants (13 disease-causing).
- MYH7-related skeletal myopathy is also caused by MYH7 variants; they fall mostly in different places as the Congenital myopathy with fiber type disproportion variants (7 disease-causing).
Diseases related to Congenital myopathy with fiber type disproportion
- Hypertrophic cardiomyopathy, also linked to MYH7
- Dilated cardiomyopathy, also linked to MYH7
- Primary dilated cardiomyopathy, also linked to MYH7
- Primary familial hypertrophic cardiomyopathy, also linked to MYH7
- Myosin storage myopathy, also linked to MYH7
- Left ventricular noncompaction, also linked to MYH7
- Primary familial dilated cardiomyopathy, also linked to MYH7
- Familial cardiomyopathy, also linked to MYH7
- Restrictive cardiomyopathy, also linked to MYH7
- MYH7-related skeletal myopathy, also linked to MYH7
- Myopathy, myosin storage, autosomal recessive, also linked to MYH7
- Myopathy, also linked to MYH7
Frequently asked questions
Which genes are linked to Congenital myopathy with fiber type disproportion?
In CATVariant, Congenital myopathy with fiber type disproportion is linked to 1 analyzed protein: MYH7 (Myosin-7).
How many genetic variants are linked to Congenital myopathy with fiber type disproportion?
64 variants: 6 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 58 are of uncertain significance or have conflicting reports.
Which uncertain variants in Congenital myopathy with fiber type disproportion 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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