Mutant POLG2 disrupts DNA polymerase γ subunits and causes progressive external ophthalmoplegia

American Journal of Human Genetics

Volumn 78, Issue 6, 2006, Pages 1026-1034

  Longley, Matthew J ^a   Clark, Susanna ^a   Man, Cynthia Yu Wai ^b   Hudson, Gavin ^b   Durham, Steve E ^b   Taylor, Robert W ^b   Nightingale, Simon ^d   Turnbull, Douglass M ^b   Copeland, William C ^a   Chinnery, Patrick F ^b,c,e  

^a NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES   (United States)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

^d ROYAL SHREWSBURY HOSPITAL   (United Kingdom)

^e NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; DNA DIRECTED DNA POLYMERASE GAMMA; GLUTAMINE; GLYCINE; MITOCHONDRIAL DNA; PROTEIN; PROTEIN P140; PROTEIN P55; RECOMBINANT PROTEIN; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BIOCHEMISTRY; CASE REPORT; COMPLEX FORMATION; DIMERIZATION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA BINDING; DNA REPLICATION; DNA REPLICATION FORK; DNA STRUCTURE; DOMINANT INHERITANCE; ENZYME ACTIVE SITE; ENZYME ANALYSIS; ENZYME DEFECT; ENZYME DEFICIENCY; ENZYME DEGRADATION; ENZYME SUBUNIT; EXTERNAL OPHTHALMOPLEGIA; FEMALE; GENE; GENE DELETION; GENE MUTATION; HAPLOTYPE; HAPLOTYPE INSUFFICIENCY; HETERODIMERIZATION; HETEROZYGOSITY; HETEROZYGOUS DOMINANT MUTATION; HUMAN; HUMAN TISSUE; MUSCLE FIBER MEMBRANE CONDUCTANCE; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLG2 GENE; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION;

EID: 33646859687     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/504303     Document Type: Article

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