A novel m.7539C>T point mutation in the mt-tRNAAsp gene associated with multisystemic mitochondrial disease-Reference-Cited by-同舟云学术

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A novel m.7539C>T point mutation in the mt-tRNAAsp gene associated with multisystemic mitochondrial disease

Published:2015-01 Issue:1 Volume:25 Page:81-84
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Lehmann Diana,Schubert Kathrin,Joshi Pushpa R.,Baty Karen,Blakely Emma L.,Zierz Stephan,Taylor Robert W.,Deschauer Marcus

Publisher

Elsevier BV

Subject

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

Reference17 articles.

1. Mitochondrial DNA mutations in human disease;Taylor;Nat Rev Genet,2005

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

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

4. A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations;Yarham;Hum Mutat,2011

5. Mitochondrial encephalomyopathies;DiMauro;Arch Neurol,1993

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4. Camptocormia as a Novel Phenotype in a Heterozygous POLG2 Mutation;Diagnostics;2020-01-26

5. Elimination of Mutant Mitochondrial DNA in Mitochondrial Myopathies Using Gene-Editing Enzymes;Muscle Gene Therapy;2019

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