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OPA1mutations in Japanese patients suspected to have autosomal dominant optic atrophy

✍ Scribed by Tetsuya Hamahata; Takuro Fujimaki; Keiko Fujiki; Ai Miyazaki; Atsushi Mizota; Akira Murakami

Publisher
Springer
Year
2011
Tongue
English
Weight
511 KB
Volume
56
Category
Article
ISSN
0021-5155

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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