Core myopathy in two siblings with a biallelic variant in the CACNA1S gene—A case series study
Core myopathy in two siblings with a biallelic variant in the CACNA1S gene—A case series study
About this item
Full title
Author / Creator
Publisher
England: John Wiley & Sons, Inc
Journal title
Language
English
Formats
Publication information
Publisher
England: John Wiley & Sons, Inc
Subjects
More information
Scope and Contents
Contents
Key Clinical Message
Homozygous variants of Calcium Voltage‐Gated Channel Subunit Alpha1 S (CACNA1S) gene mutation were previously identified as causes of periodic paralysis and congenital early‐onset myopathy, while it could be manifested as a late‐onset congenital core myopathy.
Calcium Voltage‐Gated Channel Subunit Alpha1 S (CACNA1S) gene...
Alternative Titles
Full title
Core myopathy in two siblings with a biallelic variant in the CACNA1S gene—A case series study
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_fbcf03f5597b433ea86d3053625d15bb
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_fbcf03f5597b433ea86d3053625d15bb
Other Identifiers
ISSN
2050-0904
E-ISSN
2050-0904
DOI
10.1002/ccr3.9251
