Floris M. H. Crompvoets, Hendrick L. Bethlem, Jochen Küpper, André J. A. van Roij, and Gerard Meijer Fritz-Haber-Institut der Max-Planck-Gesellschaft, Faradayweg 4-6, D-14195 Berlin, Germany; FOM-Institute for Plasmaphysics Rijnhuizen, Edisonbaan 14, NL-3439 MN Nieuwegein, The Netherlands; and Department of Molecular and Laser Physics, University of Nijmegen, Toernooiveld 1, NL-6525 ED Nijmegen...

Bckground: Myositis has been reported to be associated or triggered by viruses. Genetic and environmental factors are documented risk for myopathies. Viruses have also shown modify the clinical course of auto-immune diseases.We therefore report a case SARS-Cov-2 infection in 26-year-old female black Zambian patient with proximal myopathy.
 Case Presentation: We present 26-yearold chemical ...

Mutations in any of the three genes coding for the extracellular matrix protein collagen VI cause different types of muscle diseases, including Bethlem Myopathy (BM), Ullrich Congenital Muscular Dystrophy (UCMD) and Congenital Myosclerosis (1). Collagen VI null (Col6a1–/–) mice display a myopathic phenotype with organelle defects, mitochondrial dysfunction and spontaneous apoptosis of muscle fi...

BACKGROUND Interpretation of pediatric electromyography interpretation in myopathic disorders is technically challenging. We assessed our electromyographic experience with respect to sensitivity and specificity in pediatric myopathy. METHODS We did a retrospective chart review of patients ≤18 years between 2009 and 2013. Two hundred twenty-four electromyographic studies were reviewed with the...

Myopathy and neuropathy that have been induced by colchicine have been described only occasionally, although colchicine is a widely used drug. We describe a case of colchicine-induced myopathy and neuropathy in an 84-year-old woman who had renal impairment. Results from a muscle biopsy showed characteristic vacuolar myopathy and autophagic vacuoles. The cessation of medication resulted in a mar...

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This review focuses on congenital myopathies, a distinct but markedly heterogeneous group of muscle disorders that present with muscle weakness and typically appear at birth or in infancy. These myopathies have characteristic histopathologic abnormalities on muscle biopsy, allowing a preliminary morphologic classification. Advances in molecular genetics have allowed a more rational classificati...

Nemaline myopathy, the most common non-dystrophic congenital myopathy, is caused by mutations in six genes, all of which encode thin-filament proteins, including NEB (nebulin) and TPM3 (α tropomyosin). In contrast to the mechanisms underlying weakness in NEB-based myopathy, which are related to loss of thin-filament functions normally exerted by nebulin, the pathogenesis of muscle weakness in p...