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Optic Nerve Structural and Functional Changes in LHON-Affected and Asymptomatic Maternal Relatives: Association with H and HV Mitochondrial Haplogroups

Leber Hereditary Optic Neuropathy (LHON) affects a minority of carriers of causative mitochondrial DNA mutations. We investigated a cohort of patients with LHON, including m.11778G>A, m.3460G>A, m.14484T>C and DNAJC30 c.152A>G variants, and their asymptomatic maternal carrier relatives f...

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Detalles Bibliográficos
Autores principales: Quigley, Clare, Stephenson, Kirk A. J., Kenna, Paul, Cassidy, Lorraine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9864201/
https://www.ncbi.nlm.nih.gov/pubmed/36674591
http://dx.doi.org/10.3390/ijms24021068