Severe encephalomyopathy in a patient with homoplasmic A5814G point mutation in mitochondrial tRNACys gene-Reference-Cited by-同舟云学术

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Severe encephalomyopathy in a patient with homoplasmic A5814G point mutation in mitochondrial tRNACys gene

Published:2007-03 Issue:3 Volume:17 Page:258-261
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Scuderi Carmela,Borgione Eugenia,Musumeci Sebastiano,Elia Maurizio,Castello Filippa,Fichera Marco,Davidzon Guido,DiMauro Salvatore

Publisher

Elsevier BV

Subject

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

Reference12 articles.

1. Mitochondrial encephalomyopathies: an update;DiMauro;Neuromusc Disord,2005

2. Mitochondrial encephalomyopathies in childhood. II. Clinical manifestations and syndromes;Tulinius;J Pediatr,1991

3. Identification of a mutation in the mitochondrial tRNACys gene associated with mitochondrial encephalopathy;Manfredi;Hum Mut,1996

4. Mitochondrial tRNA(Cys) gene mutation (A5814G): a second family with mitochondrial encephalomyopathy;Santorelli;Neuromusc Disord,1997

5. A5814G mutation in mitochondrial DNA can cause mitochondrial myopathy and cardiomyopathy;Karadimas;J Child Neurol,2001

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1. Possible Role of Mitochondrial Transfer RNA Gene 5816 A > G Genetic Polymorphism (m.5816A > G) in a 3-Year-Old Child with Dystonia: Report of a Case;Global Medical Genetics;2023-09

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

3. Mitochondrial Cardiomyopathy: The Roles of mt-tRNA Mutations;Journal of Clinical Medicine;2022-10-30

4. Molecular characterization of two pedigrees with maternally inherited diabetes mellitus;Mitochondrial DNA Part B;2022-09-02

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

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