Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant-Reference-Cited by-同舟云学术

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Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant

Published:2018-04 Issue:4 Volume:28 Page:350-360
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Bacalhau Mafalda,Simões Marta,Rocha Mariana C.,Hardy Steven A.,Vincent Amy E.,Durães João,Macário Maria C.,Santos Maria João,Rebelo Olinda,Lopes Carla,Pratas João,Mendes Cândida,Zuzarte Mónica,Rego A. Cristina,Girão Henrique,Wong Lee-Jun C.,Taylor Robert W.,Grazina Manuela

Funder

Operational Competitiveness Program – COMPETE2020

Portuguese Science and Technology Foundation

Wellcome Centre for Mitochondrial Research

Medical Research Council

Lily Foundation

UK NIHR Biomedical Research Centre for Ageing and Age-related disease award

UK NHS Highly Specialised “Rare Mitochondrial Disorders of Adults and Children” Service in Newcastle upon Tyne

Publisher

Elsevier BV

Subject

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

Reference64 articles.

1. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome;Moraes;N Engl J Med,1989

2. Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA;Holt;Ann Neurol,1989

3. Chronic progressive external ophthalmoplegia: a correlative study of mitochondrial DNA deletions and their phenotypic expression in muscle biopsies;Goto;J Neurol Sci,1990

4. Mitochondrial DNA deletion in “identical” twin brothers;Blakely;J Med Genet,2004

5. Chronic progressive external ophthalmoplegia: a report of 6 cases and a review of the literature;Caballero;Neurologist,2007

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2. Have one's view of the important overshadowed by the trivial: chronic progressive external ophthalmoplegia combined with unilateral facial nerve injury: a case report and literature review;Frontiers in Neurology;2024-01-05

3. The Mitochondrial tRNASer(UCN) Gene: A Novel m.7484A>G Mutation Associated with Mitochondrial Encephalomyopathy and Literature Review;Life;2023-02-16

4. Chronic progressive external ophthalmoplegia in a Saudi patient with a mutation in the POLG gene successfully managed with bilateral frontalis sling;Journal of Genetic Medicine;2021-12-31

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