mitochondrial DNA depletion syndrome, myopathic form

Findings

No curated finding names mitochondrial DNA depletion syndrome, myopathic form 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

Infantile onset · Progressive · Death in childhood · 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

• inborn disorder of pyrimidine metabolism
• mitochondrial DNA depletion syndrome

Resolves to: mitochondrial DNA depletion syndrome, myopathic form

Also called

mitochondrial DNA depletion syndrome type 2mtDNA depletion syndrome, myopathic formThymidine Kinase 2 Deficiency