isolated mitochondrial myopathy (DOID:0081357)
Alliance: disease page
Synonyms: Autosomal dominant mitochondrial myopathy with exercise intolerance
Alt IDs: OMIM:616209, ORDO:457050
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.