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
About this item
Full title
Author / Creator
Biancalana, Valérie , Rendu, John , Chaussenot, Annabelle , Mecili, Helen , Bieth, Eric , Fradin, Mélanie , Mercier, Sandra , Michaud, Maud , Nougues, Marie-Christine , Pasquier, Laurent , Sacconi, Sabrina , Romero, Norma B. , Marcorelles, Pascale , Authier, François Jérôme , 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 and Böhm, Johann
Publisher
England: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
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 disorders including malignant hyperthermia, central c...
Alternative Titles
Full title
A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course
Authors, Artists and Contributors
Author / Creator
Rendu, John
Chaussenot, Annabelle
Mecili, Helen
Bieth, Eric
Fradin, Mélanie
Mercier, Sandra
Michaud, Maud
Nougues, Marie-Christine
Pasquier, Laurent
Sacconi, Sabrina
Romero, Norma B.
Marcorelles, Pascale
Authier, François Jérôme
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_5cf31dd78b474640baaf16ef899f028a
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_5cf31dd78b474640baaf16ef899f028a
Other Identifiers
ISSN
2051-5960
E-ISSN
2051-5960
DOI
10.1186/s40478-021-01254-y
