congenital myopathy 4B, autosomal recessive

Findings

No curated finding names congenital myopathy 4B, autosomal recessive 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

• childhood-onset nemaline myopathy
• intermediate nemaline myopathy
• TPM3-related myopathy

Resolves to: congenital myopathy 4B, autosomal recessive

Also called

nemaline myopathy caused by mutation in TPM3TPM3 nemaline myopathy