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Leber hereditary optic neuropathy plus dystonia, and transverse myelitis due to double mutations in MT-ND4 and MT-ND6
Leber hereditary optic neuropathy (LHON) typically presents as painless central or centrocecal scotoma and is due to maternally inherited mitochondrial DNA (mtDNA) mutations. Over 95% of LHON cases are caused by one of three mtDNA “common” point mutations; m.3460G>A, m.11778G>A, or m.14484T>...
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| Publicado no: | J Neurol |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7362294/ https://ncbi.nlm.nih.gov/pubmed/31776719 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00415-019-09619-z |
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