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Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: A syndrome caused by a missense mutation in OPA1

โœ Scribed by Marielle Payne; Zhenglin Yang; Bradley J. Katz; Judith E.A. Warner; Christopher J. Weight; Yu Zhao; Erik D. Pearson; Robert L. Treft; Todd Hillman; Richard J. Kennedy; Francoise M. Meire; Kang Zhang


Book ID
116199826
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
276 KB
Volume
138
Category
Article
ISSN
0002-9394

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Optic atrophy and sensorineural hearing
โœ Chunmei Li; Gregory Kosmorsky; Kang Zhang; Bradley J. Katz; Jian Ge; Elias I. Tr ๐Ÿ“‚ Article ๐Ÿ“… 2005 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 120 KB ๐Ÿ‘ 1 views

## Abstract Autosomal dominant optic atrophy (ADOA) is the most common form of inherited optic atrophy. Four genetic loci have been associated with ADOA: OPA1, OPA2, OPA3, and OPA4. Out of these four loci, only one gene has been identified, __OPA1.__ We previously described a unique syndrome of opt