Whole exome sequencing reveals a homozygous C1QBP deletion as the cause of progressive external ophthalmoplegia and multiple mtDNA deletions-Reference-Cited by-同舟云学术

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Whole exome sequencing reveals a homozygous C1QBP deletion as the cause of progressive external ophthalmoplegia and multiple mtDNA deletions

Published:2021-09 Issue:9 Volume:31 Page:859-864
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Guo Le,Govindaraj Periyasamy,Kievit Mariëlle,de Coo Irenaeus F.M.,Gerards Mike,Hellebrekers Debby M.E.I.,Stassen Alphons P.M.,Gayathri Narayanappa,Taly Arun B,Sankaran Bindu Parayil,Smeets Hubert J.M.

Publisher

Elsevier BV

Subject

Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health

Reference23 articles.

1. Progressive external ophthalmoplegia;McClelland;Curr Neurol Neurosci Rep,2016

2. Mitochondrial DNA deletions in progressive external ophthalmoplegia and kearns-sayre syndrome;Moraes;N Engl J Med,1989

3. MtDNA-maintenance defects: syndromes and genes;Viscomi;J Inherit Metab Dis,2017

4. Innovative genomic collaboration using the GENESIS (GEM.app) platform;Gonzalez;Hum Mutat,2015

5. WeGET: predicting new genes for molecular systems by weighted co-expression;Szklarczyk;Nucleic Acids Res,2015

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. CHCHD10 mutations induce tissue-specific mitochondrial DNA deletions with a distinct signature;Human Molecular Genetics;2023-10-10

2. Atheromatosis of the Scalp: A Novel Feature of Chronic Progressive External Ophthalmoplegia Plus Due to a Single Mitochondrial DNA Deletion;Cureus;2021-12-23

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