Term Name: isolated mitochondrial myopathy
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 )

Relationships
is a type of: autosomal dominant disease mitochondrial myopathy