A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: Are two mutations better than one?

European Journal of Human Genetics

Volumn 16, Issue 10, 2008, Pages 1265-1274

  Swalwell, Helen ^a,j   Blakely, Emma L ^a   Sutton, Ruth ^b   Tonska, Kasia ^a,c   Elstner, Matthias ^a,d   He, Langping ^a   Taivassalo, Tanja ^e   Burns, Dennis K ^f   Turnbull, Douglass M ^a,b   Haller, Ronald G ^f,g,h   Davidson, Mercy M ⁱ   Taylor, Robert W ^a,b  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

^c UNIVERSITY OF WARSAW   (Poland)

^d UNIVERSITY OF MUNICH   (Germany)

^e MCGILL UNIVERSITY   (Canada)

^f UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^g PRESBYTERIAN HOSPITAL OF DALLAS   (United States)

^h VA NORTH TEXAS HEALTH CARE SYSTEM   (United States)

ⁱ Addenbrooke's Hospital ^*  (United States)

^j ADDENBROOKE S HOSPITAL   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; MITOCHONDRIAL RNA; MITOCHONDRIAL TRANSFER RNA SER(UCN); TRANSFER RNA; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; CYBRID; DIABETES MELLITUS; DNA DETERMINATION; FAMILIAL DISEASE; FAMILY STUDY; FEMALE; GENE EXPRESSION; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HEARING IMPAIRMENT; HUMAN; HUMAN TISSUE; LACTATE BLOOD LEVEL; MALE; MOTHER; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; MYOPATHY; PRIORITY JOURNAL; RESPIRATORY CHAIN; SIBLING;

AGED; BASE SEQUENCE; BIOLOGICAL ASSAY; BLOTTING, NORTHERN; CLONE CELLS; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT; ELECTRON TRANSPORT COMPLEX IV; FEMALE; HUMANS; MALE; MIDDLE AGED; MITOCHONDRIAL PROTEINS; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MUTATION; PEDIGREE; PHENOTYPE; PROTEIN BIOSYNTHESIS; RNA, TRANSFER; SUCCINATE DEHYDROGENASE;

EID: 53249132725     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2008.65     Document Type: Article

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