Myology research highlights

Congenital myasthenic syndromes are a heterogeneous group of inherited disorders that arise from impaired signal transmission at the neuromuscular synapse. They are characterized by fatigable muscle weakness. To determine the underlying defect in patients with an inherited limb-girdle pattern of myasthenic weakness, linkage analysis, whole-exome and whole-genome sequencing were performed. ALG14 and ALG2 were identified … [Read more]

The clinical features of myofibrillar myopathies display a wide phenotypic heterogeneity. To date, no studies have evaluated this parameter due to the absence of pertinent animal models. Researchers from the Institute of Myology participated in this study, which addressed this issue by using an animal model based on the use of adeno-associated virus (AAV) vectors … [Read more]

The β-tropomyosin gene encodes a component of the sarcomeric thin filament. Rod-shaped dimers of tropomyosin regulate actin-myosin interactions and β-tropomyosin mutations have been associated with nemaline myopathy, cap myopathy, Escobar syndrome and distal arthrogryposis types 1A and 2B. In this study, the authors expand the allelic spectrum of β-tropomyosin-related myopathies through the identification of a … [Read more]

Duchenne muscular dystrophy (DMD) displays a clinical range that is not fully explained by the primary DMD mutations. Ltbp4, encoding latent transforming growth factor-β binding protein 4, was previously discovered in a genome-wide scan as a modifier of murine muscular dystrophy. In this study, the authors sought to determine whether LTBP4 genotype influenced DMD severity … [Read more]

Biomarkers are critically important for disease diagnosis and monitoring. In particular, close monitoring of disease evolution is eminently required for the evaluation of therapeutic treatments. Classical monitoring methods in muscular dystrophies are largely based on histological and molecular analyses of muscle biopsies. Such biopsies are invasive and therefore difficult to obtain. The serum protein creatine … [Read more]

Genetic testing and screening of minors is widespread, and testing is done routinely on virtually all newborns. A joint statement from the American College of Medical Genetics and Genomics (ACMG) and the American Academy of Pediatrics (AAP) has updated clinical guidelines for genetic screening and testing situations affecting children and adolescents. The statement is a … [Read more]

Dysferlinopathies are autosomal recessive disorders caused by mutations in the dysferlin (DYSF) gene encoding the dysferlin protein. DYSF mutations lead to a wide range of muscular phenotypes, with the most prominent being Miyoshi myopathy (MM) and limb girdle muscular dystrophy type 2B (LGMD2B). In this study, the one-year-natural course of dysferlinopathy, and the safety and … [Read more]

Duchenne muscular dystrophy is a progressive and incurable neuromuscular disease caused by genetic and biochemical defects of the dystrophin–glycoprotein complex. Here, the authors show the regenerative potential of myogenic progenitors derived from corrected dystrophic induced pluripotent stem cells generated from fibroblasts of mice lacking both dystrophin and utrophin. The phenotype of dystrophic induced pluripotent stem … [Read more]

Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of inherited neuropathies. Mutations in approximately 45 genes have been identified as being associated with CMT. Nevertheless, the genetic etiologies of at least 30% of CMTs have yet to be elucidated. Using a genome-wide linkage study, the authors of the present article have previously mapped a dominant intermediate … [Read more]

Catena® (idebenone) received conditional market approval in Canada for the treatment of Friedreich’s ataxia (FA) in July 2008. Idebenone was among the first antioxidant compounds to be tested in FA. Overall, it has been shown to be safe and well-tolerated in a number of phase 1, 2 and 3 human clinical trials dating back to … [Read more]