inborn mitochondrial myopathy
MONDO:0009637Mondo
Findings
No curated finding names inborn mitochondrial myopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Myopathy caused by mitochondrial abnormalities.
Definition from the Mondo Disease Ontology (MONDO:0009637), read 2026-09-29. CC BY 4.0.
Genes
1 gene
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.
- FDX2HGNC:30546
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
- Narrower terms (24)
- adenosine monophosphate deaminase deficiency
- adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
- autosomal dominant mitochondrial myopathy with exercise intolerance
- Barth syndrome
- congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
- COX deficiency, benign infantile mitochondrial myopathy
- fatal infantile encephalocardiomyopathy
- lethal infantile mitochondrial myopathy
- maternally-inherited progressive external ophthalmoplegia
- mitochondrial complex I deficiency, nuclear type 1
- mitochondrial complex II deficiency, nuclear type
- mitochondrial encephalomyopathy
- mitochondrial myopathy with a defect in mitochondrial-protein transport
- mitochondrial myopathy with diabetes
Other names
1 name
Resolves to: inborn mitochondrial myopathy
- Also called
- mitochondrial myopathy