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Title:

The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene.

Document type:
Journal Article; Research Support, Non-U.S. Gov't
Author(s):
Gempel, K; Topaloglu, H; Talim, B; Schneiderat, P; Schoser, BG; Hans, VH; Pálmafy, B; Kale, G; Tokatli, A; Quinzii, C; Hirano, M; Naini, A; DiMauro, S; Prokisch, H; Lochmüller, H; Horvath, R
Abstract:
Coenzyme Q10 (CoQ10) deficiency is an autosomal recessive disorder with heterogenous phenotypic manifestations and genetic background. We describe seven patients from five independent families with an isolated myopathic phenotype of CoQ10 deficiency. The clinical, histological and biochemical presentation of our patients was very homogenous. All patients presented with exercise intolerance, fatigue, proximal myopathy and high serum CK. Muscle histology showed lipid accumulation and subtle signs...     »
Journal title abbreviation:
Brain
Year:
2007
Journal volume:
130
Journal issue:
Pt 8
Pages contribution:
2037-44
Language:
eng
Fulltext / DOI:
doi:10.1093/brain/awm054
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/17412732
Print-ISSN:
0006-8950
TUM Institution:
Institut für Humangenetik
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