MFN2 mutations cause compensatory mitochondrial DNA proliferation.
MFN2 and OPA1 genes encode two dynamin-like GTPase proteins involved in the fusion of the mitochondrial membrane. They have been associated with Charcot-Marie-Tooth disease type 2A and autosomal dominant optic atrophy, respectively. We report a large family with optic atrophy beginning in early chil...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
2012-08.
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| Subjects: | |
| Online Access: | Get fulltext |