Dominant optic atrophy: Novel OPA1 mutations and revised prevalence estimates

Ophthalmology

Volumn 120, Issue 8, 2013, Pages

  Yu Wai Man, Patrick ^a   Chinnery, Patrick F ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

OPA1 PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ANAMNESIS; ARTICLE; AUTOSOMAL DOMINANT OPTIC ATROPHY; EXON; GENE MUTATION; HUMAN; INHERITANCE; MISSENSE MUTATION; NONSENSE MEDIATED MRNA DECAY; OPTIC NERVE DISEASE; PERCEPTION DEAFNESS; PERIPHERAL NEUROPATHY; PREVALENCE; PRIORITY JOURNAL;

EID: 84881146435     PISSN: 01616420     EISSN: 15494713     Source Type: Journal    
DOI: 10.1016/j.ophtha.2013.04.022     Document Type: Letter

References (5)

1. P. Yu-Wai-Man, P.G. Griffiths, and A. Burke The prevalence and natural history of dominant optic atrophy due to OPA1 mutations Ophthalmology 117 2010 1538 1546
2. P. Yu-Wai-Man, P.G. Griffiths, and P.F. Chinnery Mitochondrial optic neuropathies: disease mechanisms and therapeutic strategies Prog Retin Eye Res 30 2011 81 114
3. G. Lenaers, C. Hamel, and C. Delettre Dominant optic atrophy Orphanet J Rare Dis 7 2012 46
4. P. Yu-Wai-Man, P.G. Griffiths, and G.S. Gorman Multi-system neurological disease is common in patients with OPA1 mutations Brain 133 2010 771 786
5. D.L. Thiselton, C. Alexander, and A. Morris A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect Hum Genet 109 2001 498 502