Progressive exercise intolerance associated with a new muscle-restricted nonsense mutation (G142X) in the mitochondrial cytochrome b gene

Muscle and Nerve

Volumn 28, Issue 4, 2003, Pages 508-511

  Bruno, Claudio ^a   Santorelli, Filippo M ^b   Assereto, Stefania ^a   Tonoli, Emmanuel ^a   Tessa, Alessandra ^b   Traverso, Monica ^a   Scapolan, Sara ^a   Bado, Massimo ^a   Tedeschi, Silvana ^c   Minetti, Carlo ^a  

^a UNIVERSITY OF GENOA   (Italy)

^b BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^c Laboratory of Medical Genetics   (Italy)

Author keywords

Cytochrome b gene; Exercise intolerance; Lactic acidosis; Mitochondrial DNA

Indexed keywords

ADENOSINE TRIPHOSPHATE; CYTOCHROME B; CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); UBIQUINOL CYTOCHROME C REDUCTASE;

ADULT; ARTICLE; CASE REPORT; CONTROLLED STUDY; DNA SEQUENCE; ELECTROMYOGRAM; EXERCISE TOLERANCE; FEMALE; FIBROBLAST; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; LACTIC ACIDOSIS; LYMPHOCYTE; MOTOR UNIT POTENTIAL; MUSCLE BIOPSY; MUSCLE CRAMP; MUSCLE MITOCHONDRION; MUSCLE WEAKNESS; MYALGIA; NONSENSE MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESPIRATORY CHAIN; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SLOW MUSCLE FIBER;

ACIDOSIS, LACTIC; ADULT; BASE SEQUENCE; CODON, NONSENSE; CYTOCHROME B GROUP; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX I; ELECTRON TRANSPORT COMPLEX III; ELECTRON TRANSPORT COMPLEX IV; EXERCISE; FEMALE; HUMANS; MUSCLE CRAMP; MUSCLE FIBERS; MUSCLE, SKELETAL; NADH, NADPH OXIDOREDUCTASES;

EID: 0141704179     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/mus.10429     Document Type: Article

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