Mitochondrial myopathy and complex III deficiency in a patient with a new stop-codon mutation (G339X) in the cytochrome b gene

Journal of the Neurological Sciences

Volumn 209, Issue 1-2, 2003, Pages 61-63

  Mancuso, Michelangelo ^a   Filosto, Massimiliano ^a   Stevens, J Clarke ^b   Patterson, Marc ^a   Shanske, Sara ^a   Krishna, Sindu ^a   DiMauro, Salvatore ^a  

^a 4 420 Columbia Univ Coll Phys/S ^*  (United States)

^b MAYO CLINIC   (United States)

Author keywords

Cytochrome b mutation; Exercise intolerance; Mitochondrial myopathy

Indexed keywords

CYTOCHROME B; MITOCHONDRIAL DNA; UBIQUINOL CYTOCHROME C REDUCTASE;

ADULT; AMINO ACID SEQUENCE; ARTICLE; BLOOD LEVEL; CASE REPORT; CLINICAL FEATURE; DISEASE COURSE; ENZYME DEFICIENCY; FEMALE; HISTOCHEMISTRY; HUMAN; LABORATORY TEST; MITOCHONDRIAL MYOPATHY; MUSCLE BIOPSY; MUSCLE LEVEL; MUTATION; NEUROLOGIC EXAMINATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; STOP CODON; URINE LEVEL;

EID: 0037447767     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-510X(02)00462-8     Document Type: Article

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