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Archive ouverte | Malfatti, Edoardo | CCSD

International audience. Nemaline myopathy (NM) is a rare congenital myopathy characterised by hypotonia, muscle weakness, and often skeletal muscle deformities with the presence of nemaline bodies (rods) in the musc...

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Archive ouverte | Garibaldi, Matteo | CCSD

International audience. Several morphological phenotypes have been associated to RYR1-recessive myopathies. We recharacterized the RYR1-recessive morphological spectrum by a large monocentric study performed on 54 m...

Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies

Archive ouverte | Lehtokari, Vilma-Lotta | CCSD

International audience

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