Hot spot mutations in electron transfer flavoprotein dehydrogenase gene of riboflavin responsive lipid storage myopathy in 20 Chinese families

Chinese Journal of Neurology

Volumn 44, Issue 5, 2011, Pages 309-313

  Wang, Yun ^a   Zhao, Dan Hua ^a   Hong, Dao Jun ^a   Wang, Zhao Xia ^a   Yuan, Yun ^a  

^a PEKING UNIVERSITY FIRST HOSPITAL   (China)

Author keywords

Electron transferring flavoproteins; Lipidoses; Multiple acyl coenzyme A dehydrogenase deficiency; Muscular diseases; Mutation

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; ACYLCARNITINE; FLAVOPROTEIN; GLUTARIC ACID; OXIDOREDUCTASE;

ACIDURIA; ARTICLE; CHINESE; CLINICAL ARTICLE; CONTROLLED STUDY; ELECTRON TRANSPORT; ENZYME DEFICIENCY; FAMILY STUDY; GENE MUTATION; HUMAN; LIPID STORAGE; LIPIDOSIS; MISSENSE MUTATION; MUSCLE WEAKNESS; MYALGIA; MYOPATHY; NONSENSE MUTATION; ONSET AGE;

EID: 84860607662     PISSN: 10067876     EISSN: None     Source Type: Journal    
DOI: 10.3760/cma.j.issn.1006-7876.2011.05.005     Document Type: Article

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