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Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function

15 Sept 2017

Abstract excerpt

Myopathies encompass a wide variety of acquired and hereditary disorders. The pathomechanisms include structural and functional changes affecting, e.g., myofiber metabolism and contractile properties. In this study, we observed increased passive tension (PT) of skinned myofibers from patients with myofibrillar myopathy (MFM) caused by FLNC mutations (MFM-filaminopathy) and limb-girdle muscular dystrophy type-2A...

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PMID: 28915917
DOI: 10.1186/s40478-017-0474-0

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