Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy.

doi:10.1002/humu.23338

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Article

Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy.

Human mutation - 1 Dec 2017

Barone Virginia, Del Re Valeria, Gamberucci Alessandra, Polverino Valentina, Galli Lucia, Rossi Daniela, Costanzi Elisa, Toniolo Luana, Berti Gianna, Malandrini Alessandro, Ricci Giulia, Siciliano Gabriele, Vattemi Gaetano, Tomelleri Giuliano, Pierantozzi Enrico, Spinozzi Simone, Volpi Nila, Fulceri Rosella, Battistutta Roberto, Reggiani Carlo, Sorrentino Vincenzo

Abstract excerpt

Here, we report the identification of three novel missense mutations in the calsequestrin-1 (CASQ1) gene in four patients with tubular aggregate myopathy. These CASQ1 mutations affect conserved amino acids in position 44 (p.(Asp44Asn)), 103 (p.(Gly103Asp)), and 385 (p.(Ile385Thr)). Functional studies, based on turbidity and dynamic light scattering measurements at increasing Ca2+ concentrations, showed a reduced...

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PMID: 28895244
DOI: 10.1002/humu.23338

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CASQ1

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