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Leber’s hereditary optic neuropathy, intellectual disability and epilepsy presenting with variable penetrance associated to the m.3460G >A mutation and a heteroplasmic expansion of the microsatellite in MTRNR1 gene – case report
BACKGROUND: Leber’s hereditary optic neuropathy (LHON) associated with mutations in mitochondrial DNA (mtDNA) typically manifests only optic nerve involvement but in some patients may develop additional neurological complications. The cause of this association is not clear. CASE PRESENTATION: We pre...
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| Wydane w: | BMC Med Genet |
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| Główni autorzy: | , , , , , , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
BioMed Central
2018
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6062935/ https://ncbi.nlm.nih.gov/pubmed/30053855 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0644-3 |
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