Human genes for mitochondrial DNA depletion syndrome 12b
Mitochondrial DNA depletion syndrome 12b [DOID:0080335]
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.
Synonyms: mitochondrial DNA depletion syndrome 12b, DOID:0080335