Generation of two iPSC lines from patients with inherited central core disease and concurrent malignant hyperthermia caused by dominant missense variants in the RYR1 gene-Reference-Cited by-同舟云学术

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Generation of two iPSC lines from patients with inherited central core disease and concurrent malignant hyperthermia caused by dominant missense variants in the RYR1 gene

Published:2024-06 Issue: Volume:77 Page:103410
ISSN:1873-5061
Container-title:Stem Cell Research
language:en
Short-container-title:Stem Cell Research

Author:

Clayton Joshua S.,Vo Christina,Crane Jordan,Scriba Carolin K.,Saker Safaa,Larmonier Thierry,Malfatti Edoardo,Romero Norma B.,Ravenscroft Gianina,Laing Nigel G.,Taylor Rhonda L.

Funder

Stan Perron Charitable Foundation

Raine Medical Research Foundation

National Health and Medical Research Council

Publisher

Elsevier BV

Reference9 articles.

1. Anaesthetic deaths in a family;Denborough;Br. J. Anaesth.,1962

2. Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study;Fusto;Acta Neuropathol. Commun.,2022

3. Malignant hyperthermia in Japan;Ibarra;Anesthesiology,2006

4. Central core disease;Jungbluth;Orphanet J. Rare Dis.,2007

5. Core myopathies;Jungbluth;Semin. Pediatr. Neurol.,2011

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