Muscular dystrophies and congenital myopathies arise from specific genetic mutations
causing skeletal muscle weakness that reduces quality of life. Muscle health relies on …

Abstract SEPN1-related myopathy (SEPN1-RM) is a muscle disorder due to mutations of the
SEPN1 gene, which is characterized by muscle weakness and fatigue leading to scoliosis …

Objective To clarify the prevalence, long-term natural history, and severity determinants of
SEPN1-related myopathy (SEPN1-RM), we analyzed a large international case series …

Selenoprotein N (SEPN1) is a protein of the endoplasmic reticulum (ER) whose inherited
defects originate SEPN1-related myopathy (SEPN1-RM). Here, we identify an interaction …

Selenoprotein N (SELENON) is an endoplasmic reticulum (ER) protein whose loss of
function leads to human SELENON-related myopathies. SelenoN knockout (KO) mouse limb …

The respiratory muscles are rarely spared in children with neuromuscular diseases (NMD)
which puts them at risk of alveolar hypoventilation. The role of non-invasive ventilation (NIV) …

Background: SELENON (SEPN1)-related myopathy (SELENON-RM) is a rare congenital
neuromuscular disease characterized by proximal and axial muscle weakness, spinal …

Significance: The physiological relevance of contacts between the sarcoplasmic reticulum
(SR), a specialized domain of the endoplasmic reticulum (ER) in skeletal muscle, and …

Selenoprotein N (SEPN1) is a type II glycoprotein of the endoplasmic reticulum (ER) that
senses calcium levels to tune the activity of the sarcoplasmic reticulum calcium pump …

Objective To describe clinical features and disease progression of Selenoprotein N‐related
myopathy in a large multicenter cohort of patients. Methods Cross‐sectional multicenter data …