Course of Selenoprotein-Related Myopathies

SEPN1-related myopathies: clinical course in a large cohort of patients.

OBJECTIVE To assess the clinical course and genotype-phenotype correlations in patients with selenoprotein-related myopathy (SEPN1-RM) due to selenoprotein N1 gene (SEPN1) mutations for a retrospective cross-sectional study. METHODS Forty-one patients aged 1-60 years were included. Clinical data including scoliosis, respiratory function, and growth measurements were collected by case note rev...

Zebrafish models of collagen VI-related myopathies

Collagen VI is an integral part of the skeletal muscle extracellular matrix, providing mechanical stability and facilitating matrix-dependent cell signaling. Mutations in collagen VI result in either Ullrich congenital muscular dystrophy (UCMD) or Bethlem myopathy (BM), with UCMD being clinically more severe. Recent studies demonstrating increased apoptosis and abnormal mitochondrial function i...

RYR1-Related Myopathies and Anesthesiological Implications

The skeletal muscle sarcoplasmic reticulum calcium release channel, commonly known as ryanodine receptor type 1 (RyR1), is encoded by the RYR1 gene and specifically interacts with the voltage-dependent Ca2+-channel Cav1.1, localized at T-tubular membrane. The depolarization of the plasma membrane results in conformational changes in Cav1.1, which are transmitted directly to the RyR1 channel, ca...

NM Update Course II: Inflammatory Myopathies/Myotonic Disorders

Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.

Dominant mutations in the skeletal muscle ryanodine receptor (RYR1) gene are well-recognized causes of both malignant hyperthermia susceptibility (MHS) and central core disease (CCD). More recently, recessive RYR1 mutations have been described in few congenital myopathy patients with variable pathology, including multi-minicores. Although a clinical overlap between patients with dominant and re...