Novel TK2 mutations as a cause of delayed muscle maturation in mtDNA depletion syndrome.
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ABSTRACT:
SUBMITTER: Termglinchan T
PROVIDER: S-EPMC5024793 | biostudies-literature | 2016 Oct
REPOSITORIES: biostudies-literature
Publications
Novel TK2 mutations as a cause of delayed muscle maturation in mtDNA depletion syndrome.
Termglinchan Thanes T Hisamatsu Seito S Ohmori Junko J Suzumura Hiroshi H Sumitomo Noriko N Imataka George G Arisaka Osamu O Murakami Nobuyuki N Minami Narihiro N Akihiko Ishiyama I Sasaki Masayuki M Goto Yuichi Y Noguchi Satoru S Nonaka Ikuya I Mitsuhashi Satomi S Nishino Ichizo I
Neurology. Genetics 20160914 5
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. ...[more]
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