Mitochondrial complex i deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K)

Neurogenetics

Volumn 10, Issue 2, 2009, Pages 145-150

  Cassereau, Julien ^a,b   Chevrollier, Arnaud ^b   Gueguen, Naïg ^a,b   Malinge, Marie Claire ^b   Letournel, Franck ^b   Nicolas, Guillaume ^b   Richard, Laurence ^c   Ferre, Marc ^a,b   Verny, Christophe ^b   Dubas, Frédéric ^b   Procaccio, Vincent ^b   Amati Bonneau, Patrizia ^a,b   Bonneau, Dominique ^a,b   Reynier, Pascal ^a,b  

^a INSERM   (France)

^b ANGERS UNIVERSITY HOSPITAL   (France)

^c LIMOGES UNIVERSITY HOSPITAL   (France)

Author keywords

Autosomal dominant Charcot Marie Tooth disease; CMT2K; Complex I; GDAP1; Mitochondrial dynamics

Indexed keywords

CYSTEINE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); TYROSINE;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT CHARCOT MARIE TOOTH DISEASE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; ENERGY YIELD; ENZYME DEFICIENCY; FEMALE; FIBROBLAST; GDAP1 GENE; GENE; GENE SEQUENCE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN CELL; HYPESTHESIA; HYPOREFLEXIA; MALE; MISSENSE MUTATION; MITOCHONDRION; MUSCLE WEAKNESS; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SYMPTOM;

ADULT; CHARCOT-MARIE-TOOTH DISEASE; DNA MUTATIONAL ANALYSIS; ELECTRON TRANSPORT COMPLEX I; FEMALE; HUMANS; MALE; MIDDLE AGED; MITOCHONDRIA; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; OXIDATIVE PHOSPHORYLATION; PEDIGREE;

EID: 64149125383     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-008-0166-9     Document Type: Article

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