A novel myopathy-associated mitochondrial DNA mutation altering the conserved size of the tRNAGln anticodon loop-Reference-Cited by-同舟云学术

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A novel myopathy-associated mitochondrial DNA mutation altering the conserved size of the tRNAGln anticodon loop

Published:2000-10 Issue:7 Volume:10 Page:488-492
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Dey Runu,Tengan Celia H.,Morita Maria P.A.,Kiyomoto Beatriz H.,Moraes Carlos T.

Publisher

Elsevier BV

Subject

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

Reference25 articles.

1. Mitochondrial encephalomyopathies: gene mutation;Servidei;Neuromusc Disord,1999

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

3. Families of mtDNA re-arrangements can be detected in patients with mtDNA deletions: duplications may be a transient intermediate form;Poulton;Hum Mol Genet,1993

4. Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene;Tiranti;Hum Mol Genet,1995

5. Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrp gene;Santorelli;Ann Neurol,1997

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1. A novel pathogenic mitochondrial DNA variant m.4344T>C in tRNAGln causes developmental delay;Journal of Human Genetics;2024-05-10

2. Mitochondrial encephalopathy Due to a Novel Pathogenic Mitochondrial tRNA Gln m.4349C>T Variant;Annals of Clinical and Translational Neurology;2020-06

3. Nerve excitability changes related to muscle weakness in chronic progressive external ophthalmoplegia;Clinical Neurophysiology;2017-07

4. De novo mtDNA point mutations are common and have a low recurrence risk;Journal of Medical Genetics;2016-07-22

5. Interplay between Catalysts and Substrates for Activity of Class Ib Aminoacyl-tRNA Synthetases and Implications for Pharmacology;Current Topics in Medicinal Chemistry;2015-11-04

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