Novel TK2 mutations as a cause of delayed muscle maturation in mtDNA depletion syndrome.

ABSTRACT: Recessive mutations in TK2 cause a severe mitochondrial DNA depletion syndrome (MDS),(1) characterized by severe myopathy from early infancy. Recent reports have suggested a wider clinical spectrum including encephalomyopathic form.(1,2) We report a patient with infantile-onset fatal encephalomyopathy presenting with extreme muscle fiber immaturity.

SUBMITTER: Termglinchan T 

PROVIDER: S-EPMC5024793 | biostudies-literature | 2016 Oct

REPOSITORIES: biostudies-literature