Limited diagnostic value of enzyme analysis in patients with mitochondrial tRNA mutations

Muscle and Nerve

Volumn 41, Issue 5, 2010, Pages 607-613

  Wibrand, Flemming ^a   Jeppesen, Tina D ^b   Frederiksen, Anja L ^c   Olsen, David B ^b   Duno, Morten ^a   Schwartz, Marianne ^a   Vissing, John ^b  

^a Rigshospitalet   (Denmark)

^b UNIVERSITY OF COPENHAGEN   (Denmark)

^c ESBJERG HOSPITAL   (Denmark)

Author keywords

3243A>G; Mitochondrial myopathy; Respiratory chain enzyme analysis; Single, large scale deletions; tRNA gene mutations

Indexed keywords

CYTOCHROME C; LACTIC ACID; MITOCHONDRIAL DNA; TRANSFER RNA;

ADOLESCENT; ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC VALUE; ENZYME ACTIVITY; ENZYME ANALYSIS; FEMALE; GENE DELETION; GENE MUTATION; HISTOCHEMISTRY; HUMAN; LACTATE BLOOD LEVEL; MALE; MITOCHONDRIAL GENE; MITOCHONDRIAL MYOPATHY; MUSCLE; MUSCLE BIOPSY; MUSCLE CELL; MYOTONIC DYSTROPHY; OXYGEN CONSUMPTION; PRIORITY JOURNAL; RESPIRATORY CHAIN;

ADOLESCENT; ADULT; AGED; ENZYMES; FEMALE; GENETIC TESTING; HUMANS; LACTIC ACID; MALE; MIDDLE AGED; MITOCHONDRIAL MYOPATHIES; MUSCLE FIBERS, SKELETAL; MUSCLE, SKELETAL; OXYGEN CONSUMPTION; POINT MUTATION; PREDICTIVE VALUE OF TESTS; RNA; RNA, TRANSFER; YOUNG ADULT;

EID: 77951282089     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.21541     Document Type: Article

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