Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene

Brain

Volumn 129, Issue 7, 2006, Pages 1674-1684

  Horvath, Rita ^a   Hudson, Gavin ^g   Ferrari, Gianfrancesco ^k   Fütterer, Nancy ^b   Ahola, Sofia ^m   Lamantea, Eleonora ^k   Prokisch, Holger ^e   Lochmüller, Hanns ^c   McFarland, Robert ^g,i   Ramesh, V ⁱ   Klopstock, Thomas ^d   Freisinger, Peter ^b   Salvi, Fabrizio ^l   Mayr, Johannes A ^o   Santer, Rene ^f   Tesarova, Marketa ^p   Zeman, Jiri ^p   Udd, Bjarne ⁿ   Taylor, Robert W ^g   Turnbull, Douglass ^g   Hanna, Michael ^j   Fialho, Doreen ^j   Suomalainen, Anu ^m   Zeviani, Massimo ^k   Chinnery, Patrick F ^g,h,q   more..

^a Klinikum Schwabing   (Germany)

^b TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^c LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^d UNIVERSITY OF MUNICH   (Germany)

^e INSTITUTE OF EPIDEMIOLOGY   (Germany)

^f UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^g NEWCASTLE UNIVERSITY   (United Kingdom)

^h NEWCASTLE UNIVERSITY   (United Kingdom)

ⁱ NEWCASTLE GENERAL HOSPITAL   (United Kingdom)

^j UNIVERSITY COLLEGE LONDON   (United Kingdom)

^k National Neurological Institute   (Italy)

^l BELLARIA HOSPITAL   (Italy)

^m UNIVERSITY OF HELSINKI   (Finland)

ⁿ VAASA CENTRAL HOSPITAL   (Finland)

^o PARACELSUS MEDICAL UNIVERSITY   (Austria)

^p CHARLES UNIVERSITY   (Czech Republic)

^q NEWCASTLE UNIVERSITY   (United Kingdom)

more..

Author keywords

Alpers syndrome; Chronic progressive external ophthalmoplegia; Mitochondrial DNA; Mitochondrial encephalopathy; mtDNA; Polymerase gamma

Indexed keywords

DNA DIRECTED DNA POLYMERASE GAMMA; MITOCHONDRIAL DNA; VALPROIC ACID;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BASE PAIRING; CHILD; CLINICAL ARTICLE; DISEASE SEVERITY; DNA SEQUENCE; ENZYME ACTIVE SITE; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC COUNSELING; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HIGH RISK PATIENT; HUMAN; MALE; MELAS SYNDROME; MITOCHONDRIAL ENCEPHALOMYOPATHY; MITOCHONDRIAL RESPIRATION; MOLECULAR GENETICS; MYALGIA; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SPECTRUM; STOP CODON;

EID: 33745713884     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awl088     Document Type: Article

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