Short-Communication: Variable Expression of Clinical Symptoms and an Unexpected Finding of Vacuolar Myopathy Related to a Pathogenic Variant in the CACNA1S Gene in a Previous Case Report
Author:
Publisher
Cureus, Inc.
Subject
Aerospace Engineering
Reference20 articles.
1. Vacuolar myopathy associated to CACNA1S mutation as a rare cause of late-onset limb-girdle myopathy: a case report;López-Hernández JC;Cureus,2021
2. Myopathy as the first symptom of hypokalemic periodic paralysis--case report of a girl from a Polish family with CACNA1S (R1239G) mutation;Winczewska-Wiktor A;Adv Med Sci,2007
3. Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A;Sternberg D;Brain,2001
4. Human muscle voltage-gated ion channels and hereditary disease;Jurkat-Rott K;Curr Opin Pharmacol,2001
5. Sodium channelopathies of skeletal muscle result from gain or loss of function;Jurkat-Rott K;Pflugers Arch,2010
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