RyR1 Deficiency in Congenital Myopathies Disrupts Excitation-Contraction Coupling-Reference-Cited by-同舟云学术

RyR1 Deficiency in Congenital Myopathies Disrupts Excitation-Contraction Coupling

Published:2013-04-17 Issue:7 Volume:34 Page:986-996
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Zhou Haiyan¹,Rokach Ori²,Feng Lucy¹,Munteanu Iulia¹,Mamchaoui Kamel³,Wilmshurst Jo M.⁴,Sewry Caroline¹,Manzur Adnan Y.¹,Pillay Komala⁵,Mouly Vincent²,Duchen Michael⁶,Jungbluth Heinz⁷⁸⁹,Treves Susan²¹⁰,Muntoni Francesco¹

Affiliation:

1. Dubowitz Neuromuscular Centre; Institute of Child Health, University College London; London UK

2. Department of Anaesthesia and Biomedicine; Basel University and University Hospital Basel; Basel Switzerland

3. UM76 Université Pierre et Marie Curie; UMRS974 INSERM, UMR 7215 CNRS, Institut de Myologie AIM, Groupe hospitalier Pitié-Salpétrière, 47 bd de I'Hôpital; Paris France

4. Department of Paediatric Neurology; School of Child and Adolescent Health, University of Cape Town, Red Cross Children's Hospital; Cape Town South Africa

5. Department of Paediatric Pathology; School of Child and Adolescent Health, University of Cape Town, Red Cross Children's Hospital; Cape Town South Africa

6. Cell and Developmental Biology; University College London; London UK

7. Department of Paediatric Neurology; Evelina Children's Hospital; London UK

8. Clinical Neuroscience Division; IoP, King's College; London UK

9. Randall Division of Cell and Molecular Biophysics; Muscle Signalling Group; King's College London; London UK

10. Department of Life Sciences; University of Ferrara; Ferrara Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference41 articles.

1. Excitation-contraction uncoupling by a human central core disease mutation in the ryanodine receptor;Avila;Proc Natl Acad Sci USA,2001

2. Structural evidence for direct interaction between the molecular components of the transverse tubule/sarcoplasmic reticulum junction in skeletal muscle;Block;J Cell Biol,1988