Distinct segregation of the pathogenic m.5667G>A mitochondrial tRNAAsn mutation in extraocular and skeletal muscle in chronic progressive external ophthalmoplegia-Reference-Cited by-同舟云学术

Distinct segregation of the pathogenic m.5667G>A mitochondrial tRNAAsn mutation in extraocular and skeletal muscle in chronic progressive external ophthalmoplegia

Published:2019-05 Issue:5 Volume:29 Page:358-367
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Schlapakow Elena,Peeva Viktoriya,Zsurka Gábor,Jeub Monika,Wabbels Bettina,Kornblum Cornelia,Kunz Wolfram S.^ORCID

Funder

Deutsche Forschungsgemeinschaft

Publisher

Elsevier BV

Subject

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

Reference32 articles.

1. Muskelerkrankungen;Zierz,2014

2. Human mitochondrial DNA: roles of inherited and somatic mutations;Schon;Nat Rev Genet,2012

3. Mitochondrial tRNA mutations and disease;Yarham;Wiley Interdiscip Rev RNA,2010

4. Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders;Bannwarth;J Med Genet,2013

5. A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations;Yarham;Hum Mutat,2011

Cited by 9 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. Analysis of Mutational Burden of Mitochondrial Genome in Cells of Different Human Organs and Tissues;Current Medicinal Chemistry;2024-08-23

2. MT-TN mutations lead to progressive mitochondrial encephalopathy and promotes mitophagy;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2024-04

3. Progressive external ophthalmoplegia;Mitochondrial Diseases;2023

4. Quadruped Gait and Regulation of Apoptotic Factors in Tibiofemoral Joints following Intra-Articular rhPRG4 Injection in Prg4 Null Mice;International Journal of Molecular Sciences;2022-04-12

5. Novel Pathogenic Sequence Variation m.5789T>C Causes NARP Syndrome and Promotes Formation of Deletions of the Mitochondrial Genome;Neurology Genetics;2022-03-03