Article

Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy

2019-01-14

Abstract excerpt

Nemaline myopathy (NM) is a genetically heterogeneous skeletal muscle disorder caused by mutations predominately affecting contractile filaments, in particular thin filament structure and/or regulation. The underlying cellular pathophysiology of this disease remains largely unclear. Here, we report novel pathological defects in skeletal muscle fibres of mice and patients with NM, including disrupted nuclear envelo...

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Literature Corpus work: 044e8834-147a-5a05-a870-e595d267e912
DOI: 10.1101/518522

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