Compound Heterozygous RYR1 Variants in a Patient with Severe Congenital Myopathy: Case Report and Co...
Compound Heterozygous RYR1 Variants in a Patient with Severe Congenital Myopathy: Case Report and Comparison with Additional Cases of Recessive RYR1 -Related Myopathy
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Publisher
Switzerland: MDPI AG
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Language
English
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Publisher
Switzerland: MDPI AG
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Contents
Pathogenic variants in the ryanodine receptor 1 (
) gene are causative for a wide spectrum of muscular phenotypes, ranging from malignant hyperthermia over mild, non-progressive to severe congenital myopathy. Both autosomal dominant and recessive inheritance can occur, with the more severe forms usually showing recessive inheritance. However, ge...
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Full title
Compound Heterozygous RYR1 Variants in a Patient with Severe Congenital Myopathy: Case Report and Comparison with Additional Cases of Recessive RYR1 -Related Myopathy
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11477233
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11477233
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ISSN
1422-0067,1661-6596
E-ISSN
1422-0067
DOI
10.3390/ijms251910867
