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Article

Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy.

Neuromuscular disorders : NMD - 1 Jul 2008

Blakely Emma, He Langping, Gardner Julie L, Hudson Gavin, Walter John, Hughes Imelda, Turnbull Douglass M, Taylor Robert W

Abstract excerpt

Mitochondrial DNA depletion syndromes are a heterogeneous group of childhood neurological disorders characterised by a quantitative abnormality of mitochondrial DNA. We describe two siblings who presented at 8 months and 14 months with myopathy, which rapidly progressed and resulted in death by respiratory failure at age 14 and 18 months, respectively. Muscle biopsy revealed marked respiratory chain defects, with...

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PMID: 18508266
DOI: 10.1016/j.nmd.2008.04.014

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