Phenotype and clinical course in a family with a new de novo Twinkle gene mutation
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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. (C) 2007 Elsevier B.V. All rights reserved
Udgivelsesdato: 2008/4
Udgivelsesdato: 2008/4
Originalsprog | Engelsk |
---|---|
Tidsskrift | Neuromuscular Disorders |
Vol/bind | 18 |
Udgave nummer | 4 |
Sider (fra-til) | 306-309 |
Antal sider | 3 |
ISSN | 0960-8966 |
Status | Udgivet - 2008 |
Bibliografisk note
Times Cited: 0ArticleEnglishJeppesen, T. DUniv Copenhagen, Dept Neurol, Neuromuscular Res Unit, Rigshosp,Sect 7611, Blegdamsvej 9, DK-2100 Copenhagen, DenmarkCited References Count: 10304PSPERGAMON-ELSEVIER SCIENCE LTDTHE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLANDOXFORD
ID: 10983611