Mutant COQ2 in multiple-system atrophy [3]

New England Journal of Medicine

Volumn 371, Issue 1, 2014, Pages 80-83

  Jeon, Beom S ^a   Farrer, Matt J ^b   Bortnick, Stephanie F ^b  

^a Seoul National University   (South Korea)

^b UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

COQ2 GENE; EXON; GENE DOSAGE; GENE FREQUENCY; GENE LOCUS; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC CODE; GENETIC LINKAGE; GENETIC RISK; GENETIC VARIABILITY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; LETTER; MUTATOR GENE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RISK ASSESSMENT; SHY DRAGER SYNDROME; START CODON; SUBSTITUTION REACTION; FEMALE; GENETICS; MALE; NOTE; EUROPE; GENE MUTATION; JAPANESE (PEOPLE); PARKINSON DISEASE; POPULATION RESEARCH;

TRANSFERASE;

ALKYL AND ARYL TRANSFERASES; FEMALE; HUMANS; MALE; MULTIPLE SYSTEM ATROPHY;

EID: 84903704386     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMc1311763     Document Type: Letter

References (3)

1. The Multiple-System Atrophy Research Collaboration. Mutations in COQ2 in familial and sporadic multiple-system atrophy. N Engl J Med 2013;369:233-44.
2. López-Martín JM, Salviati L, Trevisson E, et al. Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis. Hum Mol Genet 2007;16:1091-7. (Pubitemid 47062729)
3. Ross OA, Braithwaite AT, Skipper LM, et al. Genomic investigation of alpha-synuclein multiplication and parkinsonism. Ann Neurol 2008;63:743-50. (Pubitemid 351945533)