Case report: A novel ACTA1 variant in a patient with nemaline rods and increased glycogen deposition

Case report: A novel ACTA1 variant in a patient with nemaline rods and increased glycogen deposition

BackgroundCongenital myopathies are a group of heterogeneous inherited disorders, mainly characterized by early-onset hypotonia and muscle weakness. The spectrum of clinical phenotype can be highly variable, going from very mild to severe presentations. The course also varies broadly resulting in a...

Full description

Bibliographic Details
Main Authors: Daniela Piga, Martina Rimoldi, Francesca Magri, Simona Zanotti, Laura Napoli, Michela Ripolone, Serena Pagliarani, Patrizia Ciscato, Daniele Velardo, Adele D’Amico, Enrico Bertini, Giacomo Pietro Comi, Dario Ronchi, Stefania Corti
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-03-01
Series:Frontiers in Neurology
Subjects:
ACTA1
skeletal muscle rods
glycogen storage
nemaline myopathy
case report
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2024.1340693/full

Internet

https://www.frontiersin.org/articles/10.3389/fneur.2024.1340693/full

Similar Items