Term Name: | isolated mitochondrial myopathy |
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Synonyms: | Autosomal dominant mitochondrial myopathy with exercise intolerance |
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. |
Ontology: | Human Disease [DOID:0081357] ( DOID:0081357 ) |