Impaired excitation-contraction coupling in muscle fibres from the dynamin2R465W mouse model of centronuclear myopathy-Reference-Cited by-同舟云学术

Impaired excitation-contraction coupling in muscle fibres from the dynamin2R465W mouse model of centronuclear myopathy

Published:2017-11-21 Issue:24 Volume:595 Page:7369-7382
ISSN:0022-3751
Container-title:The Journal of Physiology
language:en
Short-container-title:J Physiol

Author:

Kutchukian Candice¹^ORCID,Szentesi Peter²,Allard Bruno¹^ORCID,Trochet Delphine³,Beuvin Maud³,Berthier Christine¹,Tourneur Yves⁴⁵,Guicheney Pascale⁶^ORCID,Csernoch Laszlo²,Bitoun Marc³,Jacquemond Vincent¹^ORCID

Affiliation:

1. Univ Lyon, Université Claude Bernard Lyon 1, CNRS UMR-5310, INSERM U-1217; Institut NeuroMyoGène; Villeurbanne France

2. Department of Physiology; Faculty of Medicine; University of Debrecen; Debrecen Hungary

3. Research Center for Myology, UPMC Univ Paris 06 and INSERM UMR_S974; Institute of Myology; Paris France

4. CarMeN, INSERM U1060; Faculté de Médecine Lyon Sud; Oullins France

5. UFPE Dept Nutrição, Av. Prof. Moraes Rego; Cidade Universitária; Recife Brazil

6. Sorbonne Universités, UPMC Univ Paris 06, INSERM UMR_S1166; Institute of Cardiometabolism and Nutrition (ICAN); Paris France

Funder

AFM-Téléthon

University Claude Bernard Lyon 1

Centre National de la Recherche Scientifique

Institut National de la Santé et de la Recherche Médicale

Agence Nationale de la Recherche

Société Française de Myologie

Publisher

Wiley

Subject

Physiology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1113/JP274990/fullpdf

Reference43 articles.

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

2. T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase;Al-Qusairi;Proc Natl Acad Sci USA,2009

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

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

5. Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy;Böhm;Hum Mutat,2012

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