A Heterozygous Truncating Mutation in RRM2B Causes Autosomal-Dominant Progressive External Ophthalmoplegia with Multiple mtDNA Deletions

American Journal of Human Genetics

Volumn 85, Issue 2, 2009, Pages 290-295

  Tyynismaa, Henna ^a   Ylikallio, Emil ^a   Patel, Mehul ^b   Molnar, Maria J ^c   Haller, Ronald G ^b,d   Suomalainen, Anu ^a,e  

^a UNIVERSITY OF HELSINKI   (Finland)

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

^c SEMMELWEIS UNIVERSITY   (Hungary)

^d Institute for Exercise and Environmental Medicine Dallas   (United States)

^e HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; PROTEIN P53; PROTEIN P53 R2; PROTEIN SUBUNIT; RIBONUCLEOTIDE REDUCTASE; SUCCINATE DEHYDROGENASE; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 8Q; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; GENE; GENE DELETION; GENE FREQUENCY; GENOTYPE; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; LINKAGE ANALYSIS; MUSCLE BIOPSY; NONSENSE MUTATION; PEDIGREE ANALYSIS; POINT MUTATION; PRIORITY JOURNAL; RESPIRATORY CHAIN; RRM 2B GENE;

BIOPSY; CELL CYCLE PROTEINS; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX IV; FEMALE; GENE DELETION; GENE DOSAGE; GENOTYPE; HETEROZYGOTE; HUMANS; IMMUNOHISTOCHEMISTRY; LINKAGE (GENETICS); LOD SCORE; MALE; MUSCLE, SKELETAL; MUTATION; OPHTHALMOPLEGIA, CHRONIC PROGRESSIVE EXTERNAL; PEDIGREE; POINT MUTATION; RIBONUCLEOTIDE REDUCTASES; SEQUENCE ANALYSIS, DNA; SUCCINATE DEHYDROGENASE;

EID: 68249118218     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2009.07.009     Document Type: Article

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