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Dominant Optic Atrophy: Novel OPA1 Mutations and Revised Prevalence Estimates

✍ Scribed by Yu-Wai-Man, Patrick; Chinnery, Patrick F.

Book ID
121947457
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
78 KB
Volume
120
Category
Article
ISSN
0161-6420

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πŸ“œ SIMILAR VOLUMES

Fourteen novel OPA1 mutations in autosom
Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy
✍ Olivier Baris; CΓ©cile Delettre; Patrizia Amati-Bonneau; Marie-Odile Surget; Jean πŸ“‚ Article πŸ“… 2003 πŸ› John Wiley and Sons 🌐 English βš– 45 KB

The OPA1 gene, encoding a dynamin-related GTPase that plays a role in mitochondrial biogenesis, is implicated in most cases of autosomal dominant optic atrophy (ADOA). Sixtynine pathogenic OPA1 mutations have been reported so far. Most of these are truncating mutations located in the GTPase domain c