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

Garibaldi, M.; Rendu, J.; Brocard, J.; Lacène, E.; Fauré, J.; Brochier, G.; Beuvin, M.; Labasse, C.; Madelaine, A.; Malfatti, E.; Bevilacqua, J.; Lubieniecki, F.; Monges, S.; Taratuto, A.; Laporte, J.; Marty, I.; Antonini, G.; Romero, N.

doi:10.1186/s40478-018-0655-5

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

Shared by NobleBlocks on Jan 5, 2019 • 12:00 AM UTC

Authors:

M. Garibaldi

J. Rendu

J. Brocard

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, immunohistoch...

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