Mutations of mitochondrial DNA polymerase γA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia

Annals of Neurology

Volumn 52, Issue 2, 2002, Pages 211-219

  Lamantea, Eleonora ^a   Tiranti, Valeria ^a   Bordoni, Andreina ^b   Toscano, Antonio ^c   Bono, Francesco ^d   Servidei, Serena ^e   Papadimitriou, Alex ^f   Spelbrink, Hans ^g   Silvestri, Laura ^h   Casari, Giorgio ^h   Comi, Giacomo P ^b   Zeviani, Massimo ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^c UNIVERSITY OF MESSINA   (Italy)

^d UNIVERSITY MAGNA GRAECIA OF CATANZARO   (Italy)

^e CATHOLIC UNIVERSITY   (Italy)

^f RED CROSS HOSPITAL   (Greece)

^g TAMPERE UNIVERSITY HOSPITAL   (Finland)

^h SAN RAFFAELE HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

DNA DIRECTED DNA POLYMERASE GAMMA; MITOCHONDRIAL DNA;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME SUBUNIT; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC SCREENING; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; OPHTHALMOPLEGIA; PRIORITY JOURNAL; RECESSIVE INHERITANCE; SEQUENCE ANALYSIS;

AMINO ACID SEQUENCE; DNA-DIRECTED DNA POLYMERASE; GENES, DOMINANT; GENES, RECESSIVE; HETEROZYGOTE; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; OPHTHALMOPLEGIA; PEDIGREE;

EID: 0036327184     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.10278     Document Type: Article

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