mitochondrial DNA depletion syndrome 12b (DOID:0080335)
Alliance: disease page
Alt IDs: OMIM:615418, NCI:C129977, ORDO:1369
Definition: A mitochondrial DNA depletion syndrome that is characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, muscle weakness, and atrophy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the the solute carrier family 25 member 4 on chromosome 4q35.