EP.10A progressive infantile myopathy case with TK2-related mitochondrial DNA depletion syndrome: correlation with muscle pathology

Several types of nuclear gene defects lead to mitochondrial DNA depletion syndromes with various phenotype. One with mitochondrial thymidine kinase (TK2) mutation manifests as a myopathic form of mitochondrial dysfunction. A wide range of onset age have been reported from infant to adult, among which the infantile form deteriorates most rapidly to quadriplegia as well as respiratory failure. A 12-month-old Korean boy born of healthy parents...