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Novel TK2 mutations as a cause of delayed muscle maturation in mtDNA depletion syndrome.
Neurology. Genetics 2016 October
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.
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