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• W2340630351 abstract "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 hereditary optic neuropathy. We report heteroplasmic 14459G>A mutations in 2 unrelated children with nonmaternally inherited generalized dystonia and showing bilateral magnetic resonance imaging lesions in nucleus pallidus and putamen. Both children have reached their teenage years, and they are intellectually active, despite their motor problems." @default.
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• W2340630351 date "2016-01-01" @default.
• W2340630351 modified "2023-10-16" @default.
• W2340630351 title "A De Novo Mutation in <i>MTND6</i> Causes Generalized Dystonia in 2 Unrelated Children" @default.
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• W2340630351 doi "https://doi.org/10.1177/2329048x15627937" @default.
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