nemaline myopathy

Findings

No curated finding names nemaline 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 structural myopathy
• hereditary skeletal muscle disorder

Narrower terms (8)

• adult-onset nemaline myopathy
• childhood-onset nemaline myopathy
• MYPN-related myopathy
• nemaline myopathy 5
• nemaline myopathy 5B, autosomal recessive, childhood-onset
• nemaline myopathy 5C, autosomal dominant
• severe congenital nemaline myopathy
• typical nemaline myopathy

Resolves to: nemaline myopathy

Also called

NEMnemaline body diseasenemaline rod myopathyNMrod myopathy