Long-term screening for primary mitochondrial DNA variants associated with Leber hereditary optic neuropathy: incidence, penetrance and clinical features-Reference-Cited by-同舟云学术

Long-term screening for primary mitochondrial DNA variants associated with Leber hereditary optic neuropathy: incidence, penetrance and clinical features

Published:2020-09 Issue: Volume:54 Page:128-132
ISSN:1567-7249
Container-title:Mitochondrion
language:en
Short-container-title:Mitochondrion

Author:

Marotta Rosetta,Chin Judy,Chiotis Maria,Shuey Neil,Collins Steven J.

Funder

Department of Human Services

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Molecular Medicine

Reference24 articles.

1. Mitochondria in neuroinflammation – Multiple sclerosis (MS), leber hereditary optic neuropathy (LHON) and LHON-MS;Bargiela;Neurosci. Lett.,2019

2. Inferring relative proportions of DNA variants from sequencing electropherograms;Carr;Bioimformatics,2009

3. Characterization of a Leber's hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778G>A and m.14484T>C of the mitochondrial DNA;Catarino;Mitochondrion,2017

4. Detection rates and phenotypic spectrum of m.3243A>G in the MT-TL1 gene: A molecular diagnostic laboratory perspective;Chin;Mitochondrion,2014

5. Proportion of 11778 mutant mitochondrial DNA and clinical expression in a Thai population with Leber Hereditary Optic Neuropathy;Chuenkongkaew;J. Neuroophthalmol.,2005

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1. Red Flags in Primary Mitochondrial Diseases: What Should We Recognize?;International Journal of Molecular Sciences;2023-11-25

2. Leber’s Hereditary Optic Neuropathy with Mitochondrial DNA Mutation G11778A: A Systematic Literature Review and Meta-Analysis;BioMed Research International;2023-01-24

3. Mitochondrial Syndromes Revisited;Journal of Clinical Medicine;2021-03-17