Distal weakness with respiratory insufficiency caused by the m.8344A>G “MERRF” mutation-Reference-Cited by-同舟云学术

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Distal weakness with respiratory insufficiency caused by the m.8344A>G “MERRF” mutation

Published:2014-06 Issue:6 Volume:24 Page:533-536
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Blakely Emma L.,Alston Charlotte L.,Lecky Bryan,Chakrabarti Biswajit,Falkous Gavin,Turnbull Douglass M.,Taylor Robert W.,Gorman Grainne S.

Publisher

Elsevier BV

Subject

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

Reference7 articles.

1. Prevalence of mitochondrial DNA disease in adults;Schaefer;Ann Neurol,2008

2. Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities): disease entity or a syndrome? Light-and electron-microscopic studies of two cases and review of literature;Fukuhara;J Neurol Sci,1980

3. Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation;Shoffner;Cell,1990

4. Phenotypic heterogeneity of the 8344A>G mtDNA “MERRF” mutation;Mancuso;Neurology,2013

5. The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families;Tuppen;Brain,2010

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1. Heteroplasmy and Individual Mitogene Pools: Characteristics and Potential Roles in Ecological Studies;Biology;2023-11-20

2. Creation of Mitochondrial Disease Models Using Mitochondrial DNA Editing;Biomedicines;2023-02-12

3. Maternally Inherited Diabetes and Deafness (MIDD);Genetic Syndromes;2023

4. A Novel MTTK Gene Variant m.8315A>C as a Cause of MERRF Syndrome;Genes;2022-07-14

5. The molecular pathology of pathogenic mitochondrial tRNA variants;FEBS Letters;2021-02-12

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