Artículos de revistas
'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies
Fecha
2019Registro en:
Acta neuropathologica communications, Volumen 7, Issue 1, 2019,
20515960
10.1186/s40478-018-0655-5
Autor
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, Joce
Institución
Resumen
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 characterised by a reddish-purple granular material deposition with uneven oxidative stain and devoid of ATPase activity, which represent the characteristic lesion in muscle biopsy in 54% of patients. We named Dusty Core Disease (DuCD) the corresponding entity of congenital myopathy. Dusty cores had peculiar histological and ultrastructural characteristics compared to the other core diseases. DuCD muscle biopsies also showed nuclear centralization and type1 fibre predominance. Dusty cores were not observ