Article
Phenotype and clinical course in a family with a new de novo Twinkle gene mutation.
Neuromuscular disorders : NMD - 1 Apr 2008
Jeppesen Tina D, Schwartz Marianne, Colding-Jørgensen Eskild, Krag Thomas, Hauerslev Simon, Vissing John
Abstract excerpt
The Twinkle gene product is important for mtDNA replication. Only a few reports have investigated the clinically effect of mutations in this gene. We describe a new de novo mutation (1110C>A) in the PEO1 gene in a mother and her two sons. The mother had progressive ophthalmoplegia, limb weakness, sensory neuropathy, elevated resting plasma lactate, glucose intolerance and impaired VO2max while her sons only had...
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