A novel synonymous mutation in the MPZ gene causing an aberrant splicing pattern and Charcot-Marie-Tooth disease type 1b-Reference-Cited by-同舟云学术

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A novel synonymous mutation in the MPZ gene causing an aberrant splicing pattern and Charcot-Marie-Tooth disease type 1b

Published:2016-08 Issue:8 Volume:26 Page:516-520
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Corrado L.,Magri S.,Bagarotti A.,Carecchio M.,Piscosquito G.,Pareyson D.,Varrasi C.,Vecchio D.,Zonta A.,Cantello R.,Taroni F.,D'Alfonso S.

Funder

URSLA

Italian Ministry of Health

Euro-SCAR

National Institutes of Health

Muscular Dystrophy Association

CMTA Charcot-Marie-Tooth Association

Publisher

Elsevier BV

Subject

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

Reference9 articles.

1. Phenotypic clustering in MPZ mutations;Shy;Brain,2004

2. Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations;Grandis;Hum Mol Genet,2008

3. ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology;Richards;Genet Med,2015

4. Alternative exon 3 splicing of the human major protein zero gene in white blood cells and peripheral nerve tissue;Besançon;FEBS Lett,1999

5. U1 snRNAmis-binding: a new cause of CMT1B;Crehalet;Neurogenetics,2010

Cited by 21 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 deep intronic variant in MME causes autosomal recessive Charcot–Marie–Tooth neuropathy through aberrant splicing;Journal of the Peripheral Nervous System;2024-06

2. A deep intronic variant inMMEcauses autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing;2024-04-24

3. Charcot–Marie–Tooth Disease with Myelin Protein Zero Mutation Presenting as Painful, Predominant Small-Fiber Neuropathy;International Journal of Molecular Sciences;2024-01-29

4. Clinical Features of a Newly Described Mutation of Myelin Protein Zero in a Family;Cureus;2023-06-02

5. Code inside the codon: The role of synonymous mutations in regulating splicing machinery and its impact on disease;Mutation Research/Reviews in Mutation Research;2022-07

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