Functional Characterization of a Central Core Disease RyR1 Mutation (p.Y4864H) Associated with Quantitative Defect in RyR1 Protein-Reference-Cited by-同舟云学术

Functional Characterization of a Central Core Disease RyR1 Mutation (p.Y4864H) Associated with Quantitative Defect in RyR1 Protein

Published:2015-11-20 Issue:4 Volume:2 Page:421-432
ISSN:2214-3599
Container-title:Journal of Neuromuscular Diseases
language:
Short-container-title:JND

Author:

Cacheux Marine¹²,Blum Ariane¹²,Sébastien Muriel¹²,Wozny Anne Sophie¹²³,Brocard Julie¹²,Mamchaoui Kamel⁴,Mouly Vincent⁴,Roux-Buisson Nathalie¹²³,Rendu John¹²³,Monnier Nicole¹²³,Krivosic Renée⁵,Allen Paul⁶,Lacour Arnaud⁷,Lunardi Joël¹²³,Fauré Julien¹²³,Marty Isabelle¹²

Affiliation:

1. INSERM U836, Grenoble Institut des Neurosciences, Equipe Muscle et Pathologies, Grenoble, France

2. Université Joseph Fourier, Grenoble, France

3. Centre Hospitalier Régional Universitaire de Grenoble, Hôpital Michallon, Biochimie Génétique et Moléculaire, Grenoble, France

4. UMRS974 Inserm, UMR7215 CNRS, Institut de Myologie, GH PitiéSalpétrière, 47 bd de l’hôpital, Paris, France

5. Département Anesthésie-Réanimation, Hôpital Roger Salengro, CHRU de Lille, Lille, France

6. Department of Molecular Biosciences, School of Veterinary Medicine, University of California at Davis, Davis CA, USA

7. Service de Neurologie, Hôpital Roger Salengro, CHRU de Lille, Lille, France

Publisher

IOS Press

Subject

Neurology (clinical),Neurology

Reference36 articles.

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2. Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor;Monnier;Hum Mol Genet,2001

3. A mutation in thetransmembrane/luminal domain of the ryanodine receptor isassociated with abnormal Ca2+ release channel function and severecentral core disease;Lynch;Proc Natl Acad Sci USA,1999

4. Principal mutationhotspot for central core disease and related myopathies in theC-terminal transmembrane region of the RYR1 gene;Davis;Neuromuscul Disord,2003

5. A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene;Ferreiro;Ann Neurol,2002

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