A new mutation in the skeletal ryanodine receptor gene (RYR1) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation-Reference-Cited by-同舟云学术

A new mutation in the skeletal ryanodine receptor gene (RYR1) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation

Published:2003 Issue:3 Volume:124A Page:248-254
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Rueffert Henrik,Olthoff Derk,Deutrich Christine,Schober Ralf,Froster Ursula G.

Publisher

Wiley

Subject

Genetics (clinical)

Reference36 articles.

1. MALIGNANT HYPERTHERMIA: RELATIONSHIP TO OTHER DISEASES

2. Mutations in the human Delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis

3. Intracellular calcium homeostasis in human primary muscle cells from malignant hyperthermia-susceptible and normal individuals. Effect Of overexpression of recombinant wild-type and Arg163Cys mutated ryanodine receptors.

4. Central-core disease and malignant hyperpyrexia.

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2. Critical Role of Intracellular RyR1 Calcium Release Channels in Skeletal Muscle Function and Disease;Frontiers in Physiology;2016-01-12

3. Silent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 I>T pathogenic mutation in central core disease: a case report;BMC Research Notes;2014-08-01

4. Congenital (Structural) Myopathies;Emery and Rimoin's Principles and Practice of Medical Genetics;2013

5. Additional evidence that the ryanodine receptor gene (RYR1) causes malignant hyperthermia and severe skeletal malformations;American Journal of Medical Genetics Part A;2012-12-13