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Document type:
journal article 
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 
Title:
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. 
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 
Print-ISSN:
0006-8950 
TUM Institution:
Institut für Humangenetik