congenital myopathy 4A, autosomal dominant
MONDO:0800341Mondo
Findings
No curated finding names congenital myopathy 4A, autosomal dominant yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- A kind of
Other names
8 names
Resolves to: congenital myopathy 4A, autosomal dominant
- Also called
- cap myopathy 1CAPM1CFTDCFTDMfiber-type disproportion myopathy, congenitalmyopathy, congenital, with fiber-type disproportionNEM1nemaline myopathy 1