Article
The Location of Disease-Causing DES Variants Determines the Severity of Phenotype and the Morphology of Sarcoplasmic Aggregates.
Journal of neuropathology and experimental neurology - 16 Aug 2022
Silva André Macedo Serafim, Rodrigo Patricia, Moreno Cristiane Araújo Martins, Mendonça Rodrigo de Holanda, Estephan Eduardo de Paula, Camelo Clara Gontijo, Campos Eliene Dutra, Dias Alexandre Torchio, Nascimento Amom Mendes, Kulikowski Leslie Domenici, Oliveira Acary Souza Bulle, Reed Umbertina Conti, Goldfarb Lev G, Olivé Montse, Zanoteli Edmar
Abstract excerpt
Desmin (DES) is the main intermediate muscle filament that connects myofibrils individually and with the nucleus, sarcolemma, and organelles. Pathogenic variants of DES cause desminopathy, a disorder affecting the heart and skeletal muscles. We aimed to analyze the clinical features, morphology, and distribution of desmin aggregates in skeletal muscle biopsies of patients with desminopathy and to correlate these...
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