A Novel Mutation in MARS in a Patient with Charcot-Marie-Tooth Disease, Axonal, Type 2U with Congenital Onset-Reference-Cited by-同舟云学术

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A Novel Mutation in MARS in a Patient with Charcot-Marie-Tooth Disease, Axonal, Type 2U with Congenital Onset

Published:2019-09-03 Issue:3 Volume:6 Page:333-339
ISSN:2214-3599
Container-title:Journal of Neuromuscular Diseases
language:
Short-container-title:JND

Author:

Gillespie Meredith K.¹,McMillan Hugh J.¹²,Kernohan Kristin D.¹,Pena Izabella A.¹,Meyer-Schuman Rebecca³,Antonellis Anthony³⁴,Boycott Kym M.¹⁵,

Affiliation:

1. Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada

2. Division of Neurology, Department of Pediatrics, Children’s Hospital of Eastern Ontario, Ottawa, ON, Canada

3. Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA

4. Department of Neurology, University of Michigan, Ann Arbor, Michigan, USA

5. Department of Genetics, Children’s Hospital of Eastern Ontario, Ottawa, ON, Canada

Publisher

IOS Press

Subject

Neurology (clinical),Neurology

Reference25 articles.

1. Charcot-Marie-Tooth disease: Frequency of genetic subtypes and guidelines for Genetic Testing;Murphy;J Neurol Neurosurg Psychiatry,2012

2. Rare variants in methionyl- and tyrosyl-tRNA synthetase genes in late-onset autosomal dominant Charcot-Marie-Tooth neuropathy;Hyun;Clin Genet,2014

3. Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy;Jordanova;Nat Genet,2006

4. A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N);McLaughlin;Hum Mutat,2012

5. Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease;Meyer-Schuman;Hum Mol Genet,2017

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1. Exploring the evidence for mitochondrial dysfunction and genetic abnormalities in the etiopathogenesis of tropical ataxic neuropathy;Journal of Neurogenetics;2024-04-02

2. Idiopathic pulmonary fibrosis with benignSFTPCvariant and pathogenicMARS1mutations: can't see the forest for the trees!;ERJ Open Research;2023-09-28

3. Dominant aminoacyl-tRNA synthetase disorders: lessons learned from in vivo disease models;Frontiers in Neuroscience;2023-05-12

4. A humanized yeast model reveals dominant-negative properties of neuropathy-associated alanyl-tRNA synthetase mutations;Human Molecular Genetics;2023-04-03

5. Clinicopathological features in two families with MARS ‐related Charcot–Marie–Tooth disease;Neuropathology;2022-06-20

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