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

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 <i>DNAJC30</i> c.152A>G variants, and their asymptomatic maternal...

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Bibliographic Details
Main Authors: Clare Quigley, Kirk A. J. Stephenson, Paul Kenna, Lorraine Cassidy
Format: Article
Language:English
Published: MDPI AG 2023-01-01
Series:International Journal of Molecular Sciences
Subjects:
LHON
mitochondrial disorder
mitochondrial haplogroup
optical coherence tomography
Online Access:https://www.mdpi.com/1422-0067/24/2/1068

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https://www.mdpi.com/1422-0067/24/2/1068

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