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Metadata
ID DOID:0080120
Name mitochondrial DNA depletion syndrome 2
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.
https://ghr.nlm.nih.gov/condition/tk2-related-mitochondrial-dna-depletion-syndrome-myopathic-form, https://www.ncbi.nlm.nih.gov/pubmed/2881246, https://www.ncbi.nlm.nih.gov/pubmed/29735374, https://www.omim.org/entry/609560
Xrefs

MESH:C563698

OMIM:609560

ORDO:254875

Synonyms

TK2-related mitochondrial DNA depletion syndrome, myopathic form [EXACT]

Parent Relationships

is_a mitochondrial DNA depletion syndrome

is_a autosomal recessive disease

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