High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy

Clinical Genetics

Volumn 78, Issue 6, 2010, Pages 565-569

  Lan, M Y ^a   Fu, M H ^a   Liu, Y F ^b   Huang, C C ^a   Chang, Y Y ^a   Liu, J S ^a   Peng, C H ^a   Chen, S S ^a  

^a CHANG GUNG UNIVERSITY COLLEGE OF MEDICINE   (Taiwan)

^b CHUNG SHAN MEDICAL UNIVERSITY   (Taiwan)

Author keywords

Acylcarnitine; ETFDH; Lipid storage myopathy; Multiple acyl CoA dehydrogenation deficiency; Tandem mass spectrometry

Indexed keywords

ABHD5 PROTEIN; ACYLCARNITINE; CARNITINE PALMITOYLTRANSFERASE; CARNITINE PALMITOYLTRANSFERASE 2; ELECTRON TRANSFERRING FLAVOPROTEIN; ELECTRON TRANSFERRING FLAVOPROTEIN DEHYDROGENASE; MEMBRANE PROTEIN; ORGANIC CATION TRANSPORTING PROTEIN 5; PNPLA2 PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; BLOOD SAMPLING; CARNITINE DEFICIENCY; CHILD; CLINICAL ARTICLE; CONCENTRATION (PARAMETERS); CONTROLLED STUDY; ETHNIC GROUP; FEMALE; GENE MUTATION; GENETIC VARIABILITY; HOMOZYGOTE; HUMAN; HUMAN TISSUE; ICHTHYOSIS; LIPID STORAGE MYOPATHY; LIPIDOSIS; MALE; MEDICAL RECORD; MULTIPLE ACYL COA DEHYDROGENASE DEFICIENCY; MUSCLE BIOPSY; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SCHOOL CHILD; TAIWAN; TANDEM MASS SPECTROMETRY;

ADULT; ELECTRON-TRANSFERRING FLAVOPROTEINS; FEMALE; HUMANS; IRON-SULFUR PROTEINS; LIPIDOSES; MALE; MULTIPLE ACYL COENZYME A DEHYDROGENASE DEFICIENCY; MUSCULAR DISEASES; MUTATION; OXIDOREDUCTASES ACTING ON CH-NH GROUP DONORS; TAIWAN;

EID: 78149263592     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01421.x     Document Type: Article

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