A new mutation in the mitochondrial tRNAPro gene associated with early-onset neuromuscular phenotype and ragged-red fibers-Reference-Cited by-同舟云学术

A new mutation in the mitochondrial tRNAPro gene associated with early-onset neuromuscular phenotype and ragged-red fibers

Published:2016-12 Issue:12 Volume:26 Page:885-889
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Morel Godelieve,Bannwarth Sylvie,Chaussenot Annabelle,Cano Aline,Fragaki Konstantina,Ait-El-Mkadem Samira,Rouzier Cecile,De Paula Andre Maues,Chabrol Brigitte,Paquis-Flucklinger Veronique

Publisher

Elsevier BV

Subject

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

Reference13 articles.

1. Human mitochondrial transfer RNAs: role of pathogenic mutation in disease;Scaglia;Muscle Nerve,2008

2. Human mitochondrial tRNAs: biogenesis, function, structural aspects, and diseases;Suzuki;Annu Rev Genet,2011

3. Biochemical and molecular investigations in respiratory chain deficiencies;Rustin;Clin Chim Acta,1994

4. A rapid and sensitive method for the quantitation of micrograms quantities of protein utilizing the principle of protein-dye binding;Bradford;Anal Biochem,1976

5. Rapid mapping of mitochondrial DNA deletions by large-fragment PCR;Paul;Trends Genet,1996

Cited by 5 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A new family with a case of severe early-onset muscle fatigue and a peculiar maternally inherited painful swelling in chewing muscles associated with homoplasmic m.15992A>T mutation in mitochondrial tRNAPro;Neuromuscular Disorders;2023-12

2. Single‐fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases;Human Mutation;2020-06-12

3. Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases;BMC Medical Genetics;2018-04-07

4. Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations;Journal of Human Genetics;2018-02-06

5. Mitochondrial disorders due to tRNA(Pro) mutations;Neuromuscular Disorders;2017-08