Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase γ

Archives of Neurology

Volumn 60, Issue 9, 2003, Pages 1279-1284

  Filosto, Massimiliano ^a   Mancuso, Michelangelo ^a   Nishigaki, Yutaka ^a   Pancrudo, Jacklyn ^a   Harati, Yadollah ^b   Gooch, Clifton ^a   Mankodi, Ami ^c   Bayne, Lydia ^d   Bonilla, Eduardo ^a   Shanske, Sara ^a   Hirano, Michio ^a   DiMauro, Salvatore ^a  

^a Columbia Univ Coll of Phys/Surgs ^*  (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c UNIVERSITY OF ROCHESTER SCHOOL OF MEDICINE AND DENTISTRY   (United States)

^d Kern Critical Care Unit   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

ADULT; ALLELE; ANT1 GENE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 10; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; EXTERNAL OPHTHALMOPLEGIA; FEMALE; GASTROINTESTINAL DISEASE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; GENOTYPE PHENOTYPE CORRELATION; HEARING IMPAIRMENT; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; HYPOGONADISM; MALE; MENTAL DEFICIENCY; NEUROPATHY; OPEN READING FRAME; POLG GENE; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; STRUCTURAL GENE;

ADULT; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 10; DISEASE PROGRESSION; DNA HELICASES; DNA MUTATIONAL ANALYSIS; DNA PRIMASE; DNA PRIMERS; DNA-DIRECTED DNA POLYMERASE; FEMALE; GENETIC HETEROGENEITY; GENOTYPE; HUMANS; LINKAGE (GENETICS); MALE; MIDDLE AGED; OPHTHALMOPLEGIA; PEDIGREE; PHENOTYPE; POINT MUTATION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; REPRESSOR PROTEINS; VIRAL PROTEINS;

EID: 0042922454     PISSN: 00039942     EISSN: None     Source Type: Journal    
DOI: 10.1001/archneur.60.9.1279     Document Type: Article

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