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2 Possible Causes for Mutation in the CASQ1 Gene

  • Tubular Aggregate Myopathy

    Here, we report the identification of three novel missense mutations in the calsequestrin-1 (CASQ1) gene in four patients with tubular aggregate myopathy.[ncbi.nlm.nih.gov] These CASQ1 mutations affect conserved amino acids in position 44 (p.(Asp44Asn)), 103 (p.(Gly103Asp)), and 385 (p.(Ile385Thr)).[ncbi.nlm.nih.gov]

  • Myopathy

    Here, we report the identification of three novel missense mutations in the calsequestrin-1 (CASQ1) gene in four patients with tubular aggregate myopathy.[ncbi.nlm.nih.gov] These CASQ1 mutations affect conserved amino acids in position 44 (p.(Asp44Asn)), 103 (p.(Gly103Asp)), and 385 (p.(Ile385Thr)).[ncbi.nlm.nih.gov]

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