Rhabdomyolysis (RM) is a clinical emergency characterized by fulminant skeletal muscle
damage and release of intracellular muscle components into the blood stream leading to …

Background Type 1 spinal muscular atrophy (SMA) is a progressive neuromuscular disease
characterized by an onset at 6 months of age or younger, an inability to sit without support …

Myasthenia gravis (MG), an autoimmune neuromuscular disorder, may be a risk factor for
severe COVID-19. We conducted an observational retrospective study with 15 consecutive …

Spinal muscular atrophy (SMA) is genetic and progressive, caused by large bi-allelic
deletions in the SMN1 gene, or the association of a large deletion and a null variant …

Centronuclear myopathy (CNM) is a genetically heterogeneous disorder associated with
general skeletal muscle weakness, type I fiber predominance and atrophy, and abnormally …

In eukaryotic cells, phosphoinositides are lipid second messengers important for many
cellular processes and have been found dysregulated in several human diseases. X-linked …

Background Risdiplam is an orally administered therapy that modifies pre-mRNA splicing of
the survival of motor neuron 2 (SMN2) gene and is approved for the treatment of spinal …

Background: More than one-third of COVID-19 patients present neurological symptoms
ranging from anosmia to stroke and encephalopathy. Furthermore, pre-existing neurological …

SH3 and cysteine‐rich domain‐containing protein 3 (STAC3) is an essential component of
the skeletal muscle excitation–contraction coupling (ECC) machinery, though its role and …

Nemaline myopathy (NM) is one of the most common non-dystrophic genetic muscle
disorders. NM is often associated with mutations in the NEB gene. Even though the exact …