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Article

CACNA1S Variant Associated With a Myalgic Myopathy Phenotype.

Neurology - 31 Oct 2023

Periviita Vesa, Palmio Johanna, Jokela Manu, Hartikainen Paivi, Vihola Anna, Rauramaa Tuomas, Udd Bjarne

Abstract excerpt

BACKGROUND AND OBJECTIVES: This study aimed to characterize the phenotype of a novel myalgic myopathy encountered in a Finnish family. METHODS: Four symptomatic and 3 asymptomatic individuals from 2 generations underwent clinical, neurophysiologic, imaging, and muscle biopsy examinations. Targeted sequencing of all known myopathy genes was performed. RESULTS: A very rare CACNA1S gene variant c.2893G>C (p.E965Q)...

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Identifiers

PMID: 37679049
DOI: 10.1212/WNL.0000000000207639
PMCID: PMC10634652

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