OBO ID: DOID:0080120
Term Name: mitochondrial DNA depletion syndrome 2 Search Ontology:
Synonyms:
  • TK2-related mitochondrial DNA depletion syndrome, myopathic form
Definition: 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. (4)
References:
Ontology: Human Disease   (DOID:0080120)
OTHER mitochondrial DNA depletion syndrome 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TK2 Mitochondrial DNA depletion syndrome 2 (myopathic type) 609560
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None