Mitochondrial myopathy due to novel missense mutation in the cytochrome c oxidase 1 gene

Journal of the Neurological Sciences

Volumn 319, Issue 1-2, 2012, Pages 158-163

  Massie, Rami ^a,d   Wang, Jing ^b   Chen, Li Chieh ^b   Zhang, Victor W ^b   Collins, Michael P ^c   Wong, Lee Jun C ^b   Milone, Margherita ^a  

^a MAYO CLINIC   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c MEDICAL COLLEGE OF WISCONSIN   (United States)

^d HÔPITAL DU SACRÉ COEUR DE MONTRÉAL   (Canada)

Author keywords

COX; Cytochrome c oxidase; Mitochondrial myopathy; MTCO1; Muscle inflammation

Indexed keywords

MITOCHONDRIAL DNA;

ADULT; ARTICLE; CASE REPORT; CYTOCHROME C OXIDASE 1 GENE; DNA SEQUENCE; ELECTROMYOGRAM; FEMALE; GENE; GENE MUTATION; HUMAN; HUMAN TISSUE; MISSENSE MUTATION; MITOCHONDRIAL MYOPATHY; MUSCLE BIOPSY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ELECTRON TRANSPORT COMPLEX IV; FEMALE; HUMANS; MIDDLE AGED; MITOCHONDRIAL MYOPATHIES; MUSCLE WEAKNESS; MUSCLE, SKELETAL; MUTATION, MISSENSE;

EID: 84862772888     PISSN: 0022510X     EISSN: 18785883     Source Type: Journal    
DOI: 10.1016/j.jns.2012.05.003     Document Type: Article

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