Childhood onset mitochondrial myopathy and lactic acidosis caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene [2]

Journal of Medical Genetics

Volumn 39, Issue 11, 2002, Pages 812-816

  Horvath R ^a   Scharfe, C ^a   Hoeltzenbein, M ^a   Do, B H ^a   Schroder C ^a   Warzok, R ^a   Vogelgesang, S ^a   Lochmuller H ^a   Muller Hocker J ^a   Gerbitz, K D ^a   Oefner, P J ^a   Jaksch, Michaela ^a  

^a Klinikum Schwabing   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE;

ADOLESCENT; CASE REPORT; CHILDHOOD DISEASE; EXERCISE TOLERANCE; GENE DELETION; GENE MUTATION; GENETIC CONSERVATION; GROWTH RETARDATION; HUMAN; LACTIC ACIDOSIS; LETTER; LIPIDOSIS; MALE; MITOCHONDRIAL MYOPATHY; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL;

ACIDOSIS, LACTIC; ADOLESCENT; AGE OF ONSET; CHILD; CODON, TERMINATOR; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX IV; HUMANS; MALE; MITOCHONDRIAL MYOPATHIES; MUTATION;

EID: 18744412927     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

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