Human genes for mitochondrial DNA depletion syndrome 1
Mitochondrial DNA depletion syndrome 1 [DOID:0080119]
A mitochondrial DNA depletion syndrome that is characterized by onset between the second and fifth decades of life of ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility, cachexia, diffuse leukoencephalopathy, peripheral neuropathy, and mitochondrial dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear-encoded thymidine phosphorylase gene on chromosome 22q13.
Synonyms: mitochondrial DNA depletion syndrome 1, DOID:0080119, mitochondrial DNA depletion syndrome 1 (MNGIE type), mitochondrial neurogastrointestinal encephalopathy syndrome, TYMP-related, mitochondrial DNA depletion syndrome 1 MNGIE type ...