DNM2 mutations in a cohort of sporadic patients with centronuclear myopathy-Reference-Cited by-同舟云学术

DNM2 mutations in a cohort of sporadic patients with centronuclear myopathy

Published:2015-06 Issue:2 Volume:38 Page:147-151
ISSN:1415-4757
Container-title:Genetics and Molecular Biology
language:
Short-container-title:Genet. Mol. Biol.

Author:

Abath Neto Osorio¹,Martins Cristiane de Araújo²,Carvalho Mary²,Chadi Gerson²,Seitz Katia Werneck³,Oliveira Acary Souza Bulle⁴,Reed Umbertina Conti²,Laporte Jocelyn⁵,Zanoteli Edmar²

Affiliation:

1. Universidade de São Paulo, Brasil; University of Strasbourg, France

2. Universidade de São Paulo, Brasil

3. Associação de Pais e Amigos dos Excepcionais, Brasil

4. Universidade Federal de São Paulo, Brasil

5. University of Strasbourg, France

Publisher

FapUNIFESP (SciELO)

Subject

Genetics,Molecular Biology

Link

http://www.scielo.br/pdf/gmb/v38n2/1415-4757-gmb-38-2-147.pdf

Reference24 articles.

1. SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy;Agrawal PB;Am J Hum Genet,2014

2. Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization;Bevilacqua JA;Neuropathol Appl Neurobiol,2011

3. Mutations in dynamin 2 cause dominant centronuclear myopathy;Bitoun M;Nat Genet,2005

4. Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset;Bitoun M;Ann Neurol,2007

5. A new centronuclear myopathy phenotype due to a novel dynamin 2 mutation;Bitoun M;Neurology,2009

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1. DNM2 levels normalization improves muscle phenotypes of a novel mouse model for moderate centronuclear myopathy;Molecular Therapy - Nucleic Acids;2023-09

2. Dynamins in human diseases: differential requirement of dynamin activity in distinct tissues;Current Opinion in Cell Biology;2023-04

3. Phenotypic Spectrum ofDNM2-Related Centronuclear Myopathy;Neurology Genetics;2022-10-25

4. A dog model for centronuclear myopathy carrying the most common DNM2 mutation;Disease Models & Mechanisms;2022-04-01

5. Benefits of therapy by dynamin-2-mutant-specific silencing are maintained with time in a mouse model of dominant centronuclear myopathy;Molecular Therapy - Nucleic Acids;2022-03