Clinical and molecular spectrum of muscular dystrophies (MDs) with intellectual disability (ID): A comprehensive overview
M Mohamadian, M Rastegar, N Pasamanesh… - Journal of Molecular …, 2022 - Springer
Muscular dystrophies encompass a wide and heterogeneous subset of hereditary
myopathies that manifest by the structural or functional abnormalities in the skeletal muscle …
myopathies that manifest by the structural or functional abnormalities in the skeletal muscle …
Delayed respiratory insufficiency and extramuscular abnormalities in selenoprotein N-related myopathies
S Zhang, L Lei, Z Fan, S Su, J Duo, Q Luan… - Frontiers in …, 2021 - frontiersin.org
Background: Selenoprotein N-related myopathies (SEPN1-RMs) are a subset of congenital
myopathies caused by mutations of Selenoprotein N gene (SELENON or SEPN1). Clinical …
myopathies caused by mutations of Selenoprotein N gene (SELENON or SEPN1). Clinical …
Orthopedic manifestations of congenital muscular dystrophy subtypes in children: Emerging signatures need consolidation: a scoping review
TA El-Sobky, H Abdulhady, S Mahmoud… - … Surgery and Research, 2024 - journalmsr.com
Our objective was to screen the literature on congenital muscular dystrophy (CMD)
children/adolescents regarding the extent/nature of reporting orthopedic manifestations …
children/adolescents regarding the extent/nature of reporting orthopedic manifestations …