Congenital megaconial myopathy due to a novel defect in the choline kinase beta gene

Archives of Neurology

Volumn 69, Issue 5, 2012, Pages 657-661

  Gutiérrez Ríos, Purificacion ^a   Kalra, Arun A ^c   Wilson, Jon D ^c   Tanji, Kurenai ^a,b   Akman, Hasan O ^a   Area Gómez, Estela ^a   Schon, Eric A ^a,b   DiMauro, Salvatore ^a  

^a New York Presbyterian Columbia University Medical Center   (United States)

^b Department of Medicine   (United States)

^c Louisiana State University Health Sciences Center at Shreveport   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; DNA;

ARTICLE; BIOCHEMISTRY; CASE REPORT; CHILD; CHOLINE KINASE BETA GENE; CLINICAL FEATURE; CONGENITAL MEGACONIAL MYOPATHY; CYTOCHROME C OXIDASE DEFICIENCY; GENE; GENE MUTATION; GENE SEQUENCE; HISTOLOGY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; MALE; MITOCHONDRIAL RESPIRATION; MUSCLE BIOPSY; MYOPATHY; PRESCHOOL CHILD; PRIORITY JOURNAL; STOP CODON; TERTIARY HEALTH CARE;

CHILD, PRESCHOOL; CHOLINE KINASE; DNA MUTATIONAL ANALYSIS; ELECTRON TRANSPORT; HUMANS; MALE; MITOCHONDRIAL MYOPATHIES; MUSCLE, SKELETAL; MUTATION;

EID: 84860893968     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneurol.2011.2333     Document Type: Article

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