Early Findings in Neonatal Cases of RYR1–Related Congenital Myopathies

Ryanodine receptor type 1-related congenital myopathies are the most represented subgroup among congenital myopathies (CMs), typically presenting a central core or multiminicore muscle histopathology and high clinical heterogeneity. We evaluated a cohort of patients affected with Ryanodine receptor...

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Publicado en:Frontiers in Neurology
Main Authors: Eleonora Mauri, Daniela Piga, Alessandra Govoni, Roberta Brusa, Serena Pagliarani, Michela Ripolone, Robertino Dilena, Claudia Cinnante, Monica Sciacco, Denise Cassandrini, Vincenzo Nigro, Nereo Bresolin, Stefania Corti, Giacomo P. Comi, Francesca Magri
Formato: Artigo
Publicado: Frontiers Media S.A. 2021-06-01
Assuntos:
Congenital myopathy
RyR1
Fetal brain MRI
Neonatal
Muscle MRI
Muscle biopsy
Acceso en liña:https://www.frontiersin.org/articles/10.3389/fneur.2021.664618/full
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https://www.frontiersin.org/articles/10.3389/fneur.2021.664618/full

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