What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

Brain

Volumn 135, Issue 12, 2012, Pages 3614-3626

  Neeve, Vivienne C M ^a   Samuels, David C ^b   Bindoff, Laurence A ^c,d   Van Den Bosch, Bianca ^e   Van Goethem, Gert ^f,g,h   Smeets, Hubert ^e   Lombès, Anne ^i,j   Jardel, Claude ^i,j   Hirano, Michio ^k   Dimauro, Salvatore ^k   De Vries, Maaike ^l   Smeitink, Jan ^l   Smits, Bart W ^m   De Coo, Ireneus F M ⁿ   Saft, Carsten ^o   Klopstock, Thomas ^p   Keiling, Bianca Cortina ^q   Czermin, Birgit ^q   Abicht, Angela ^q   Lochmüller, Hanns ^a   Hudson, Gavin ^a   Gorman, Grainne G ^a   Turnbull, Doug M ^a   Taylor, Robert W ^a   Holinski Feder, Elke ^q   Chinnery, Patrick F ^a   Horvath, Rita ^a,q   more..

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF BERGEN   (Norway)

^d HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^e MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^f UNIVERSITY OF ANTWERP   (Belgium)

^g UNIVERSITY OF ANTWERP   (Belgium)

^h ANTWERP UNIVERSITY HOSPITAL   (Belgium)

ⁱ INSTITUT COCHIN   (France)

^j PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^k NewYork Presbyterian Hospital   (United States)

^l RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^m RADBOUD UNIVERSITY NIJMEGEN   (Netherlands)

ⁿ ERASMUS MEDICAL CENTER   (Netherlands)

^o ST JOSEF HOSPITAL   (Germany)

^p LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^q Medical Genetic Center   (Germany)

more..

Author keywords

genetics; mitochondrial diseases; molecular biology; neuromuscular disorders; phenotype

Indexed keywords

ALANINE; ANT1 PROTEIN; DNA POLYMERASE; GAMMA POLYMERASE; MEMBRANE PROTEIN; MITOCHONDRIAL DNA; PEO1 PROTEIN; POLG2 PROTEIN; THREONINE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ALPERS DISEASE; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BIOCHEMICAL COMPOSITION; CAUCASIAN; CHILDHOOD DISEASE; DISEASE ASSOCIATION; DNA DETERMINATION; DNA FLANKING REGION; DOMINANT GENE; DYSARTHRIA; EPILEPSY; EUROPE; FEMALE; GENE EXPRESSION REGULATION; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; HAPLOTYPE; HISTOPATHOLOGY; HOMOZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PRIORITY JOURNAL; RECESSIVE GENE; SENSORY ATAXIC NEUROPATHY DYSARTHRIA; SEX DIFFERENCE; SIBLING; UNITED STATES;

EID: 84871771908     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/aws298     Document Type: Article

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