A novel OPA1 mutation causing variable age of onset autosomal dominant optic atrophy plus in an Australian family

Journal of Neurology

Volumn 262, Issue 10, 2015, Pages 2323-2328

  Ahmad, K E ^a   Davis, R L ^b   Sue, C M ^a,b  

^a ROYAL NORTH SHORE HOSPITAL   (Australia)

^b UNIVERSITY OF SYDNEY   (Australia)

Author keywords

ADOA Plus; GTPase domain; OPA1; Optic atrophy; Sensorineural deafness

Indexed keywords

ADULT; AGED; ARTICLE; ATAXIA; AUSTRALIAN; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT OPTIC ATROPHY; AUTOSOMAL DOMINANT OPTIC ATROPHY PLUS; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CLINICAL FEATURE; CONTROLLED STUDY; DEGENERATIVE DISEASE; DISABILITY; DISEASE SEVERITY; FAMILY; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC VARIABILITY; HEARING IMPAIRMENT; HETEROZYGOSITY; HUMAN; MALE; MIDDLE AGED; MYOPATHY; NEUROLOGIC DISEASE; NEUROPATHY; ONSET AGE; OPA1 GENE; OPHTHALMOPLEGIA; OPTIC NERVE ATROPHY; PHENOTYPE; PRIORITY JOURNAL; PTOSIS; VISUAL IMPAIRMENT; AUSTRALIA; GENETICS; MUTATION; PATHOPHYSIOLOGY; PEDIGREE;

GUANOSINE TRIPHOSPHATASE; OPA1 PROTEIN, HUMAN;

ADULT; AGED; AUSTRALIA; FEMALE; GTP PHOSPHOHYDROLASES; HUMANS; MALE; MUTATION; OPTIC ATROPHY, AUTOSOMAL DOMINANT; PEDIGREE; PHENOTYPE;

EID: 84944513142     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-015-7849-6     Document Type: Article

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