congenital myopathy 7A, myosin storage, autosomal dominant

Findings

No curated finding names congenital myopathy 7A, myosin storage, autosomal dominant yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

Autosomal dominant inheritance

Onset and course

Childhood 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

• congenital myopathy
• congenital nervous system disorder
• neuromuscular disease caused by qualitative or quantitative defects of beta-myosin heavy chain (MYH7)
• scapuloperoneal myopathy

Resolves to: congenital myopathy 7A, myosin storage, autosomal dominant

Also called

autosomal dominant myosin storage myopathyMSMAMYH7-related late-onset scapuloperoneal muscular dystrophyMYH7-related late-onset scapuloperoneal syndromeMYH7-related late-onset SPMDMYH7-related scapuloperoneal myopathymyopathy with lysis of type 1 myofibrilsmyopathy, hyaline body, autosomal dominantmyopathy, myosin storage, autosomal dominantscapuloperoneal muscular dystrophyscapuloperoneal myopathy, MYH7-relatedscapuloperoneal syndrome, myopathic typeSPMDSPMM