Phenotype and clinical course in a family with a new de novo Twinkle gene mutation

Tina D Jeppesen, Marianne Schwartz, Eskild Colding-Jørgensen, Thomas Krag, Simon Hauerslev, John Vissing

Abstract

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 mild ptosis. In accordance with the clinical presentation, abnormal morphological findings in muscle and multiple deletions and depletion of mtDNA in muscle were more pronounced in the proband than in her sons.

OriginalsprogEngelsk
TidsskriftNeuromuscular disorders : NMD
Vol/bind18
Udgave nummer4
Sider (fra-til)306-9
Antal sider4
ISSN0960-8966
DOI
StatusUdgivet - apr. 2008

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