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Article

CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy.

Acta neuropathologica - 1 Jan 2018

Böhm Johann, Lornage Xavière, Chevessier Frederic, Birck Catherine, Zanotti Simona, Cudia Paola, Bulla Monica, Granger Florence, Bui Mai Thao, Sartori Maxime, Schneider-Gold Christiane, Malfatti Edoardo, Romero Norma B, Mora Marina, Laporte Jocelyn

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29039140
DOI: 10.1007/s00401-017-1775-x

Genes

CASQ1

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CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy.PMID 29039140Read ↗

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A Mutation in the <i>CASQ1</i> Gene Causes a Vacuolar Myopathy with Accumulation of Sarcoplasmic Reticulum Protein AggregatesSemantic proximity Read ↗

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Tubular Aggregate Myopathies: Genetic Heterogeneity and Diverse Clinical Features Converging on Calcium Dysregulation.Semantic proximity Read ↗

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Characterization of Two Human Skeletal Calsequestrin Mutants Implicated in Malignant Hyperthermia and Vacuolar Aggregate MyopathySemantic proximity Read ↗

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