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

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

Abstract 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, immu...

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Bibliographic Details
Main Authors: Matteo Garibaldi, John Rendu, Julie Brocard, Emmanuelle Lacene, Julien Fauré, Guy Brochier, Maud Beuvin, Clemence Labasse, Angeline Madelaine, Edoardo Malfatti, Jorge Alfredo Bevilacqua, Fabiana Lubieniecki, Soledad Monges, Ana Lia Taratuto, Jocelyn Laporte, Isabelle Marty, Giovanni Antonini, Norma Beatriz Romero
Format: Article
Language:English
Published: BMC 2019-01-01
Series:Acta Neuropathologica Communications
Subjects:
RYR1 recessive
Dusty Core Disease
Central Core Disease
Congenital Myopathy
Centronuclear myopathy
Ryanodine receptor
Online Access:http://link.springer.com/article/10.1186/s40478-018-0655-5

Internet

http://link.springer.com/article/10.1186/s40478-018-0655-5

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