OPA1 R445H mutation in optic atrophy associated with sensorineural deafness

Annals of Neurology

Volumn 58, Issue 6, 2005, Pages 958-963

  Amati Bonneau, Patrizia ^a   Guichet, Agnès ^b   Olichon, Aurélien ^c   Chevrollier, Arnaud ^a   Viala, Frédérique ^d   Miot, Stéphanie ^a   Ayuso, Carmen ^e   Odent, Sylvie ^f   Arrouet, Catherine ^g   Verny, Christophe ^b   Calmels, Marie Noelle ^d   Simard, Gilles ^a   Belenguer, Pascale ^c   Wang, Jing ^h   Puel, Jean Luc ^h   Hamel, Christian ^h   Malthièry, Yves ^a   Bonneau, Dominique ^a,b   Lenaers, Guy ^h   Reynier, Pascal ^a,b  

^a Institut National de la Sante et de la Recherche Médicale U694   (France)

^b ANGERS UNIVERSITY HOSPITAL   (France)

^c UNIVERSITÉ PAUL SABATIER   (France)

^d TOULOUSE UNIVERSITY HOSPITAL   (France)

^e Hospital UniversitarioFundación Jiménez Díaz   (Spain)

^f RENNES UNIVERSITY HOSPITAL   (France)

^g LILLE UNIVERSITY HOSPITAL   (France)

^h HÔPITAL SAINT ELOI   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUDIOMETRY; CLINICAL ARTICLE; COCHLEA; FEMALE; GENE; GENE MUTATION; HETEROZYGOTE; HUMAN; MEMBRANE POTENTIAL; MITOCHONDRIAL MEMBRANE; NEUROPATHOLOGY; OPA1 GENE; OPTIC NERVE ATROPHY; PERCEPTION DEAFNESS; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN SYNTHESIS; SCHOOL CHILD; SKIN FIBROBLAST;

ADOLESCENT; ADULT; ANIMALS; AUDIOMETRY; CHILD; COCHLEA; CRICETINAE; FEMALE; FIBROBLASTS; GENOTYPE; GTP PHOSPHOHYDROLASES; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; MITOCHONDRIA; OPTIC ATROPHY, AUTOSOMAL DOMINANT; OXYGEN CONSUMPTION; PHENOTYPE; POINT MUTATION; SKIN;

EID: 28544431607     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.20681     Document Type: Article

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