CASQ1-related myopathy: The first report from China and the literature review.

ABSTRACT: Calsequestrin 1 (CASQ1) is the most crucial Ca²⁺ binding protein localized in the sarcoplasmic reticulum (SR) of skeletal muscle. With high capacity and low affinity for Ca²⁺, CASQ1 plays a significant role in maintaining a large amount of Ca²⁺ necessary for muscle contraction. However, only five mutations in CASQ1 have been identified to date. Here, we report a 42-year-old Chinese female patient who presented with a 12 years history of slowly progressive upper limb weakness, predominantly affecting distal muscles, which was uncommon comparing to other CASQ1-related patients. Next-generation sequencing (NGS) analysis revealed a novel heterozygous mutation (c.766G > A, p.Val256Met) in CASQ1. Functional studies confirmed the likely pathogenicity

SUBMITTER: Zhang KY 

PROVIDER: S-EPMC9731158 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature