OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes

Brain

Volumn 131, Issue 2, 2008, Pages 338-351

  Amati Bonneau, Patrizia ^a,b   Valentino, Maria Lucia ^c   Reynier, Pascal ^a,b   Gallardo, Maria Esther ^d   Bornstein, Belén ^d   Boissière, Anne ^e   Campos, Yolanda ^d   Rivera, Henry ^d   De La Aleja, Jesús González ^d   Carroccia, Rosanna ^c   Iommarini, Luisa ^c   Labauge, Pierre ^f   Figarella Branger, Dominique ^g   Marcorelles, Pascale ^h   Furby, Alain ⁱ   Beauvais, Katell ⁱ   Letournel, Franck ^a   Liguori, Rocco ^c   La Morgia, Chiara ^c   Montagna, Pasquale ^c   Liguori, Maria ^j   Zanna, Claudia ^c   Rugolo, Michela ^c   Cossarizza, Andrea ^k   Wissinger, Bernd ^l   Verny, Christophe ^a   Schwarzenbacher, Robert ^m   Martín, Miguel Ángel ^d   Arenas, Joaquín ^d   Ayuso, Carmen ^d   Garesse, Rafael ^d   Lenaers, Guy ^e   Bonneau, Dominique ^a,b   Carelli, Valerio ^c   more..

^a ANGERS UNIVERSITY HOSPITAL   (France)

^b INSERM   (France)

^c UNIVERSITY OF BOLOGNA   (Italy)

^d INSTITUTO DE SALUD CARLOS III   (Spain)

^e UNIV MONTPELLIER   (France)

^f NÎMES UNIVERSITY HOSPITAL   (France)

^g TIMONE HOSPITAL   (France)

^h BREST UNIVERSITY HOSPITAL   (France)

ⁱ Centre Hospitalier de Saint Brieuc   (France)

^j INSTITUTE OF NEUROLOGICAL SCIENCES   (Italy)

^k UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^l University Eye Hospital Tuebingen   (Germany)

^m UNIVERSITY OF SALZBURG   (Austria)

more..

Author keywords

Chronic progressive external ophthalmoplegia; Dominant optic atrophy; Mitochondria; Mitochondrial encephalomyopathy; mtDNA multiple deletions

Indexed keywords

MITOCHONDRIAL DNA; OPA1 PROTEIN; PROTEIN DERIVATIVE; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; ATAXIA; AUTOSOMAL DOMINANT INHERITANCE; AXONAL SENSORY MOTOR POLYNEUROPATHY; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; CLINICAL ARTICLE; CYTOCHROME C OXIDASE DEFICIENCY; FEMALE; GENE DELETION; GENE MUTATION; HUMAN; MALE; MISSENSE MUTATION; MITOCHONDRIAL MYOPATHY; NUCLEOTIDE SEQUENCE; OPA1 GENE; OPTIC NERVE ATROPHY; PERCEPTION DEAFNESS; PHENOTYPE; POINT MUTATION; POLYNEUROPATHY; PRIORITY JOURNAL; SCHOOL CHILD; SKELETAL MUSCLE;

ADULT; AGED; BASE SEQUENCE; CHILD; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FEMALE; FIBROBLASTS; GTP PHOSPHOHYDROLASES; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MITOCHONDRIAL MYOPATHIES; MODELS, MOLECULAR; MUSCLE, SKELETAL; MUTATION, MISSENSE; OPHTHALMOPLEGIA, CHRONIC PROGRESSIVE EXTERNAL; OPTIC ATROPHY, AUTOSOMAL DOMINANT; PEDIGREE; POINT MUTATION; SYNDROME; TOMOGRAPHY, X-RAY COMPUTED;

EID: 38849192448     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awm298     Document Type: Article

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