OPA3-related autosomal dominant optic atrophy and cataract with ataxia and areflexia

European Neurology

Volumn 68, Issue 2, 2012, Pages 108-110

  Ayrignac, X ^a,e   Liauzun, C ^b   Lenaers, G ^b   Renard, D ^a   Amati Bonneau, P ^c   De Seze J ^d   Dollfus, H ^d   Hamel, C ^a,b   Bonneau, D ^c   Labauge, P ^a  

^a MONTPELLIER UNIVERSITY HOSPITAL   (France)

^b Montpellier University Medical Center   (France)

^c ANGERS UNIVERSITY HOSPITAL   (France)

^d UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^e GUI DE CHAULIAC HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

LACTIC ACID; MESSENGER RNA; MITOCHONDRIAL DNA; OPA1 PROTEIN; OPA3 PROTEIN; PROTEIN; PYRUVIC ACID; UNCLASSIFIED DRUG;

ADULT; AREFLEXIA; ATAXIA; AUTOSOMAL DOMINANT OPTIC ATROPHY; CASE REPORT; CATARACT; CONTROLLED STUDY; EVOKED MUSCLE RESPONSE; EVOKED SOMATOSENSORY RESPONSE; EXON; EYE EXAMINATION; FEMALE; GENE MUTATION; HUMAN; IMMUNOHISTOCHEMISTRY; LACTATE BLOOD LEVEL; LETTER; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; NYSTAGMUS; PRIORITY JOURNAL; VISUAL IMPAIRMENT;

ADULT; ATAXIA; CATARACT; FEMALE; HUMANS; MALE; MIDDLE AGED; OPTIC ATROPHY, AUTOSOMAL DOMINANT; PROTEINS; REFLEX, ABNORMAL;

EID: 84863771775     PISSN: 00143022     EISSN: 14219913     Source Type: Journal    
DOI: 10.1159/000339310     Document Type: Letter

References (5)

1. Amati-Bonneau P, Valentino ML, Reynier P, et al: OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. Brain 2008; 131: 338-351. (Pubitemid 351197609)
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3. Reynier P, Amati-Bonneau P, Verny C, et al: OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract. J Med Genet 2004; 41:e110.
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