mitochondrial DNA depletion syndrome 2

Term ID

DOID:0080120

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. (3)

References

• MESH:C563698
• MIM:609560
• ORDO:254875

Ontology

Human Disease   ( DOID:0080120 )