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

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 cohort of 48 genetically confirmed patients, using histoenzymology, immunohistoch...

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Vydáno v:Acta Neuropathol Commun
Hlavní autoři: 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 Lia, Laporte, Jocelyn, Marty, Isabelle, Antonini, Giovanni, Romero, Norma Beatriz
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2019
Témata:
Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6320585/
https://ncbi.nlm.nih.gov/pubmed/30611313
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40478-018-0655-5
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