Ontology highlight
ABSTRACT:
SUBMITTER: Garibaldi M
PROVIDER: S-EPMC6320585 | biostudies-literature | 2019 Jan
REPOSITORIES: biostudies-literature
Garibaldi Matteo M Rendu John J Brocard Julie J Lacene Emmanuelle E Fauré Julien J Brochier Guy G Beuvin Maud M Labasse Clemence C Madelaine Angeline A Malfatti Edoardo E Bevilacqua Jorge Alfredo JA Lubieniecki Fabiana F Monges Soledad S Taratuto Ana Lia AL Laporte Jocelyn J Marty Isabelle I Antonini Giovanni G Romero Norma Beatriz NB
Acta neuropathologica communications 20190105 1
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, immunohistochemistry, and ultrastructural studies. We also analysed the level of RyR1 expression in patients' muscle biopsies. We defined "dusty cores" the irregular areas of myofibrillar disorganisation character ...[more]