Human genes for mitochondrial DNA depletion syndrome 2
Mitochondrial DNA depletion syndrome 2 [DOID:0080120]
A mitochondrial DNA depletion syndrome that is characterized by childhood onset of muscle weakness associated with depletion of mtDNA in skeletal muscle, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the mitochondrial thymidine kinase gene on chromosome 16q21.
Synonyms: mitochondrial DNA depletion syndrome 2, DOID:0080120, TK2-related mitochondrial DNA depletion syndrome, myopathic form, myopathic form TK2-related mitochondrial DNA depletion syndrome, TK2related mitochondrial DNA depletion syndrome myopathic form ...