ListarNeuropatología y Biología Molecular por tema "RYR1 recessive"

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'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies

Garibaldi, Matteo; Rendu, John; Brocard, Julie; Lacene, Emmanuelle; Fauré, Julien; Brochier, Guy; Beuvin, Maud; Labasse, Clemence; Madelaine, Angeline; Malfatti, Edoardo; Bevilacqua, Jorge Alfredo; Lubieniecki, Fabiana; Monges, Soledad; Taratuto, Ana Lía; Laporte, Jocelyn; Marty, Isabelle; Antonini, Giovanni; Romero, Norma Beatriz (BioMed Central, 2019-01-05)

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 muscle biopsies from a large ...

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