centronuclear myopathy

Findings

No curated finding names centronuclear myopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

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

• congenital myopathy
• hereditary skeletal muscle disorder

Narrower terms (5)

• autosomal dominant centronuclear myopathy
• autosomal recessive centronuclear myopathy
• congenital myopathy with internal nuclei and atypical cores
• myopathy, centronuclear, 6, with fiber-type disproportion
• X-linked myotubular myopathy

Resolves to: centronuclear myopathy

Also called

CNMmyopathy, centronuclear