Journal Articles Acta Neuropathologica Year : 2017

CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy

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Genetics
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hal-03663164 , version 1 (09-05-2022)

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Johann Bohm, Xavière Lornage, Frédéric Chevessier, Catherine Birck, Simona Zanotti, et al.. CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy. Acta Neuropathologica, 2017, 135, pp.149-151. ⟨10.1007/s00401-017-1775-x⟩. ⟨hal-03663164⟩
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