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Title | Authors / Editors | Date | |
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CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy | Böhm, Johann; Lornage, Xavière; Chevessier, Frederic; Birck, Catherine; ... Laporte, Jocelyn | 2018 |
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A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene | Ferreiro-girani, Ana; Monnier, Nicole; Romero, Norma B; Leroy, Jean-Paul; ... Guicheney, Pascale | 2002 |