A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course

A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course

Abstract The ryanodine receptor RyR1 is the main sarcoplasmic reticulum Ca2+ channel in skeletal muscle and acts as a connecting link between electrical stimulation and Ca2+-dependent muscle contraction. Abnormal RyR1 activity compromises normal muscle function and results in various human disorders...

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Main Authors: Valérie Biancalana, John Rendu, Annabelle Chaussenot, Helen Mecili, Eric Bieth, Mélanie Fradin, Sandra Mercier, Maud Michaud, Marie-Christine Nougues, Laurent Pasquier, Sabrina Sacconi, Norma B. Romero, Pascale Marcorelles, François Jérôme Authier, Antoinette Gelot Bernabe, Emmanuelle Uro-Coste, Claude Cances, Bertrand Isidor, Armelle Magot, Marie-Christine Minot-Myhie, Yann Péréon, Julie Perrier-Boeswillwald, Gilles Bretaudeau, Nicolas Dondaine, Alison Bouzenard, Mégane Pizzimenti, Bruno Eymard, Ana Ferreiro, Jocelyn Laporte, Julien Fauré, Johann Böhm
Format: Article
Language:English
Published: BMC 2021-09-01
Series:Acta Neuropathologica Communications
Subjects:
Neuromuscular disorder
Congenital myopathy
Calcium
Muscle weakness
Excitation–contraction coupling
Triad
Online Access:https://doi.org/10.1186/s40478-021-01254-y

Internet

https://doi.org/10.1186/s40478-021-01254-y

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