congenital myopathy with reduced type 2 muscle fibers

Findings

No curated finding names congenital myopathy with reduced type 2 muscle fibers yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

Autosomal recessive inheritance

Onset and course

Death in infancy · Congenital onset

HPO, annotations 2026-09-02

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

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

• autosomal recessive disease
• congenital myopathy
• hereditary skeletal muscle disorder

Resolves to: congenital myopathy with reduced type 2 muscle fibers

Also called

myopathy, congenital, with fast-twitch (type II) fiber atrophymyopathy, congenital, with fast-twitch (type II) fibre atrophy