|OBO ID: DOID:0080120|
|Term Name:||mitochondrial DNA depletion syndrome 2||Search Ontology:|
|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)|
|Ontology:||Human Disease (DOID:0080120)|
|is a type of:||
OTHER mitochondrial DNA depletion syndrome 2 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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