Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder

Acta Ophthalmologica

Volumn 91, Issue 3, 2013, Pages

  Liskova, Petra ^a   Ulmanova, Olga ^a   Tesina, Petr ^b,c   Melsova, Hana ^d   Diblik, Pavel ^a   Hansikova, Hana ^a   Tesarova, Marketa ^a   Votruba, Marcela ^e,f  

^a CHARLES UNIVERSITY   (Czech Republic)

^b INSTITUTE OF MOLECULAR GENETICS   (Czech Republic)

^c INSTITUTE OF ORGANIC CHEMISTRY AND BIOCHEMISTRY   (Czech Republic)

^d Neurology Clinic   (Czech Republic)

^e CARDIFF UNIVERSITY   (United Kingdom)

^f UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

Author keywords

ataxia; autosomal dominant; deafness; encephalomyopathy; novel mutation; OPA1; ophthalmoplegia; optic atrophy; polyneuropathy; ptosis

Indexed keywords

BOTULINUM TOXIN;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; ATAXIA; AUTOSOMAL DOMINANT INHERITANCE; CEREBELLUM DISEASE; CERVICAL DYSTONIA; CHILD; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; CLINICAL ARTICLE; CONTROLLED STUDY; CZECH REPUBLIC; FEMALE; GAIT DISORDER; GENOTYPE PHENOTYPE CORRELATION; HEARING AID; HEARING IMPAIRMENT; HUMAN; MALE; MIGRAINE; MISSENSE MUTATION; MOLECULAR GENETICS; NEUROLOGIC DISEASE; NUCLEOTIDE SEQUENCE; NYSTAGMUS; OPA1 GENE; OPTIC NERVE ATROPHY; PEDIGREE ANALYSIS; PERCEPTION DEAFNESS; POLYNEUROPATHY; PRIORITY JOURNAL; PTOSIS; SCHOOL CHILD; SEQUENCE ANALYSIS; TACHYCARDIA; TINNITUS; TREMOR;

ADULT; AGED; BLEPHAROPTOSIS; CHILD; EXONS; FEMALE; GENOTYPE; GTP PHOSPHOHYDROLASES; HEARING LOSS; HEARING TESTS; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; OPHTHALMOPLEGIA, CHRONIC PROGRESSIVE EXTERNAL; OPTIC ATROPHY; PEDIGREE; PERIPHERAL NERVOUS SYSTEM DISEASES; PHENOTYPE; TOMOGRAPHY, OPTICAL COHERENCE;

EID: 84876409316     PISSN: 1755375X     EISSN: 17553768     Source Type: Journal    
DOI: 10.1111/aos.12038     Document Type: Article

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