A De Novo Mutation in Causes Generalized Dystonia in 2 Unrelated Children
Dystonia is often associated with the symmetrical basal ganglia lesions of Leigh syndrome. However, it has also been associated with mitochondrial ND mutations, with or without Leber hereditary optic neuropathy. The m.14459G>A mutation in ND6 causes dystonia with or without familial Leber heredit...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SAGE Publishing
2016-03-01
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| Series: | Child Neurology Open |
| Online Access: | https://doi.org/10.1177/2329048X15627937 |