Case report: Clinical and molecular characterization of two siblings affected by Brody myopathy

Case report: Clinical and molecular characterization of two siblings affected by Brody myopathy

Exercise-induced muscle stiffness is the hallmark of Brody disease, an autosomal recessive myopathy due to biallelic pathogenic variants in ATP2A1, encoding the sarcoplasmic/endoplasmic reticulum Ca2+ ATPase SERCA1. About 40 patients have been reported so far. Our knowledge about the natural history...

Full description

Bibliographic Details
Main Authors: Daniele Velardo, Sara Antognozzi, Martina Rimoldi, Serena Pagliarani, Filippo Cogiamanian, Sergio Barbieri, Stefania Corti, Giacomo Pietro Comi, Dario Ronchi
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-06-01
Series:Frontiers in Neurology
Subjects:
Brody myopathy
SERCA1
ATP2A1
WES
neuromuscular disorder
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2023.1170071/full

Internet

https://www.frontiersin.org/articles/10.3389/fneur.2023.1170071/full

Similar Items