RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes-Reference-Cited by-同舟云学术

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RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes

Published:2002-07-16 Issue:2 Volume:20 Page:88-97
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Robinson Rachel L.,Brooks Collin,Brown Sarah L.,Ellis F. Richard,Halsall P. Jane,Quinnell Rupert J.,Shaw Marie-Anne,Hopkins Philip M.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference44 articles.

1. Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test

2. Segregation of malignant hyperthermia, central core disease and chromosome 19 markers

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1. Congenital Myopathy-1B due to RYR 1 Gene Mutation in Three Libyan Families;Ibnosina Journal of Medicine and Biomedical Sciences;2024-06

2. An Association between OXPHOS-Related Gene Expression and Malignant Hyperthermia Susceptibility in Human Skeletal Muscle Biopsies;International Journal of Molecular Sciences;2024-03-20

3. Recurrent malignant hyperthermia after scoliosis correction surgery;World Journal of Emergency Medicine;2024

4. Predictive factors of the contracture test for diagnosing malignant hyperthermia in a Brazilian population sample: a retrospective observational study;Brazilian Journal of Anesthesiology (English Edition);2023-03

5. Risk of malignant hyperthermia in patients carrying a variant in the skeletal muscle ryanodine receptor 1 gene;Neuromuscular Disorders;2022-12

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