mitochondrial DNA deletion syndrome with progressive myopathy

Findings

No curated finding names mitochondrial DNA deletion syndrome with progressive myopathy 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

Adult onset · Slowly progressive · Young adult 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

• mitochondrial DNA depletion syndrome
• progressive external ophthalmoplegia with mitochondrial DNA deletions

Resolves to: mitochondrial DNA deletion syndrome with progressive myopathy

Also called

mitochondrial DNA deletion syndrome with limb-girdle weaknessmtDNA deletion syndrome with limb-girdle weaknessmtDNA deletion syndrome with progressive myopathyprogressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 6