Progressive external ophthalmoplegia due to a recurrent de novo m.15990C>T MT-TP (mt-tRNAPro) gene variant-Reference-Cited by-同舟云学术

Progressive external ophthalmoplegia due to a recurrent de novo m.15990C>T MT-TP (mt-tRNAPro) gene variant

Published:2020-04 Issue:4 Volume:30 Page:346-350
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Joshi Pushpa Raj,Baty Karen^ORCID,Hopton Sila,Cordts Isabell,Falkous Gavin,Schoser Benedikt,Blakely Emma L.,Taylor Robert W.^ORCID,Deschauer Marcus^ORCID

Funder

Wellcome Centre for Mitochondrial Research

Publisher

Elsevier BV

Subject

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

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

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

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1. A new family with a case of severe early-onset muscle fatigue and a peculiar maternally inherited painful swelling in chewing muscles associated with homoplasmic m.15992A>T mutation in mitochondrial tRNAPro;Neuromuscular Disorders;2023-12

2. Progressive external ophthalmoplegia;Mitochondrial Diseases;2023

3. Role of the mtDNA Mutations and Mitophagy in Inflammaging;International Journal of Molecular Sciences;2022-01-25

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