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Autosomal Dominant Optic Atrophy: Penetrance and Expressivity in Patients With OPA1 Mutations

✍ Scribed by Amy C. Cohn; Carmel Toomes; Catherine Potter; Katherine V. Towns; Alex W. Hewitt; Chris F. Inglehearn; Jamie E. Craig; David A. Mackey


Book ID
116201690
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
524 KB
Volume
143
Category
Article
ISSN
0002-9394

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Fourteen novel OPA1 mutations in autosom
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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