Myology research highlights
RSS feedALG2 and ALG14: novel genes causing congenital myasthenic syndromes
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]
Development of desmin mutant mouse models to study myofibrillar myopathy
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]
Identification of a novel β-tropomyosin mutation
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]
LTBP4 genotype predicts age of ambulatory loss in DMD
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]
miRNAs as biomarkers in striated muscle pathologies
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 in children: Guidelines updated
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]
Deflazacort in Dysferlinopathies
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]
New stem cell approach for the treatment of Duchenne Muscular Dystrophy
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]
Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy
A cardioskeletal myopathy with onset and death in infancy, morphological features of muscle type I hypotrophy with myofibrillar disorganization and dilated cardiomyopathy was previously reported in three Dutch families. Here, the authors report the genetic cause of this disorder. Multipoint parametric linkage analysis of six Dutch patients identified a homozygous region of 2.1 Mb on … [Read more]
Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability
Syndromes associated with multiple mtDNA deletions are due to different molecular defects that can result in a wide spectrum of predominantly adult-onset clinical presentations, ranging from progressive external ophthalmoplegia (PEO) to multisystemic disorders of variable severity. The autosomal-dominant form of PEO is genetically heterogeneous. Recently, causative mutations have been reported in several nuclear genes that … [Read more]
