Article
Mitochondrial DNA depletion in single fibers in a patient with novel TK2 mutations.
Neuromuscular disorders : NMD - 1 Aug 2014
Roos S, Lindgren U, Ehrstedt C, Moslemi A R, Oldfors A
Abstract excerpt
The mitochondrial DNA (mtDNA) depletion syndrome is a genetically heterogeneous group of diseases caused by nuclear gene mutations and secondary reduction in mtDNA copy number. We describe a patient with progressive muscle weakness and increased creatine kinase and lactate levels. Muscle weakness was first noted at age 1.5 years and he died of respiratory failure and bronchopneumonia at age 3.5 years. The muscle...
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