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

Biancalana, Valérie; Rendu, John; Chaussenot, Annabelle; Mecili, Helen; Bieth, Eric; Fradin, Mélanie; Mercier, Sandra; Michaud, Maud; Nougues, Marie-Christine; Pasquier, Laurent; Sacconi, Sabrina; B. Romero, Norma; Marcorelles, Pascale; Jérôme Authier, François; Gelot Bernabe, Antoinette; Uro-Coste, Emmanuelle; Cances, Claude; Isidor, Bertrand; Magot, Armelle; Minot-Myhie, Marie-Christine; Péréon, Yann; Perrier-Boeswillwald, Julie; Bretaudeau, Gilles; Dondaine, Nicolas; Bouzenard, Alison; Pizzimenti, Mégane; Eymard, Bruno; Ferreiro, Ana; Laporte, Jocelyn; Fauré, Julien; Böhm, Johann

doi:10.1186/s40478-021-01254-y

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

Shared by NobleBlocks on Sep 17, 2021 • 12:00 AM UTC

Authors:

Valérie Biancalana

John Rendu

Annabelle Chaussenot

Abstract

Abstract The ryanodine receptor RyR1 is the main sarcoplasmic reticulum Ca 2+ channel in skeletal muscle and acts as a connecting link between electrical stimulation and Ca 2+ -dependent muscle contraction. Abnormal RyR1 activity compromises normal muscle function and results in various human disord...

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