CACNA1S -associated triadopathy presenting with myalgia, muscle weakness, and asymptomatic hyperCKemia

• Published in: Therapeutic advances in neurological disorders Vol. 18; p. 17562864251317961
• Main Authors: Luo, Si, Zhu, Min, Tan, Dandan, Qiu, Yusen, Zhou, Meihong, Hong, Daojun
• Format: Journal Article
• Language: English
• Published: England SAGE Publications 01.01.2025
• Subjects: Case Series; myalgia; CACNA1S; ryanodine receptor; hyperCKemia; triad

CACNA1S variants can alter the structure and function of the calcium channel, resulting in abnormal calcium influx and homeostasis. It is well established that pathogenic variants in CACNA1S can lead to hypokalemic periodic paralysis, malignant hyperthermia, and congenital myopathy. Nevertheless, th...