| Metadata | |
|---|---|
| ID | DOID:0081357 |
| Name | isolated mitochondrial myopathy |
| Definition | A mitochondrial myopathy that is characterized by onset of proximal lower limb weakness and exercise intolerance in the first decade of life and that has_material_basis_in heterozygous mutation in the CHCHD10 gene on chromosome 22q11. https://pubmed.ncbi.nlm.nih.gov/35700042/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Autosomal dominant mitochondrial myopathy with exercise intolerance [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |