The role of complex I genes in MELAS: A novel heteroplasmic mutation 3380G>A in ND1 of mtDNA

Neuromuscular Disorders

Volumn 18, Issue 7, 2008, Pages 553-556

  Horváth, Rita ^a,b   Reilmann, Ralf ^c   Holinski Feder, Elke ^b   Ringelstein, E Bernd ^c   Klopstock, Thomas ^a  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b Medical Genetic Centre   (Germany)

^c UNIVERSITY OF MÜNSTER   (Germany)

Author keywords

Complex I; MELAS; Novel mutation

Indexed keywords

MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

ADULT; AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; DNA DETERMINATION; FAMILY HISTORY; FEMALE; GENE MUTATION; HETEROPLASMY; HUMAN; MELAS SYNDROME; MUSCLE BIOPSY; MUSCLE CELL; MUTATIONAL ANALYSIS; NEUROLOGIC EXAMINATION; PATHOGENICITY; PRIORITY JOURNAL;

ANALYSIS OF VARIANCE; ANIMALS; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX I; FAMILY HEALTH; FEMALE; HUMANS; MELAS SYNDROME; MIDDLE AGED; MUSCLE, SKELETAL; MUTATION; NADH DEHYDROGENASE; STATISTICS, NONPARAMETRIC;

EID: 46449103463     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2008.05.002     Document Type: Article

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