Novel SCO2 Mutation (G1521A) Presenting as a Spinal Muscular Atrophy Type I Phenotype

American Journal of Medical Genetics

Volumn 125 A, Issue 3, 2004, Pages 310-314

  Tarnopolsky, Mark A ^a,d   Bourgeois, J M ^a   Fu, M H ^a   Kataeva, G ^a   Shah, J ^a   Simon, D K ^b   Mahoney, D ^a   Johns, D ^b   MacKay, N ^c   Robinson, B H ^c  

^a MCMASTER UNIVERSITY   (Canada)

^b BETH ISRAEL DEACONESS MEDICAL CENTER   (United States)

^c HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^d MCMASTER UNIVERSITY MEDICAL CENTRE   (Canada)

Author keywords

Cytochrome oxidase deficiency; Mitochondrial disease; Nuclear mutation; Werdnig Hoffman

Indexed keywords

CELL NUCLEUS DNA; COPPER; CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; SURVIVAL MOTOR NEURON PROTEIN;

AGE; ARTICLE; AUTOPSY; CARDIOMYOPATHY; CASE REPORT; CLINICAL FEATURE; CYTOCHROME C OXIDASE DEFICIENCY; DISEASE COURSE; DISEASE SEVERITY; DNA SEQUENCE; ELECTROMYOGRAM; ENZYME ACTIVITY; EXON; GENE; GENE DELETION; GENE MUTATION; GENETIC CODE; GENETIC SCREENING; HEART MUSCLE BIOPSY; HETEROZYGOSITY; HISTOCHEMISTRY; HUMAN; HUMAN TISSUE; LACTIC ACIDOSIS; LIFE; LIVER BIOPSY; MALE; METAL BINDING; MUSCLE BIOPSY; MUSCLE CONTRACTION; MUSCLE HYPOTONIA; NEWBORN; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; RESPIRATORY DISTRESS; SCO2 GENE; SPINAL MUSCULAR ATROPHY; STAINING; TREATMENT OUTCOME;

EID: 10744220944     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20466     Document Type: Article

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