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Source: Acta Neuropathologica
Nutrition: Fibre
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Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy
AbstractNemaline myopathy (NM) is a skeletal muscle disorder caused by mutations in genes that are generally involved in muscle contraction, in particular those related to the structure and/or regulation of the thin filament. Many pathogenic aspects of this disease remain largely unclear. Here, we report novel pathological defects in skeletal muscle fibres of mouse models and patients with NM: irregular spacing and morphology of nuclei; disrupted nuclear envelope; altered chromatin arrangement; and disorganisation of the cortical cytoskeleton. Impairments in contractility are the primary cause of these nuclear defects. We ...
Source: Acta Neuropathologica - June 18, 2019 Category: Neurology Source Type: research
