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Updated: Jun 14, 2026

MultiBac System-Based Purification and Biophysical Characterization of Human Myosin-7a
Published on: August 23, 2024
[Myosin storage myopathy: a rare subtype of protein aggregate myopathies]
I C Kiphuth1, E Neuen-Jacob, T Struffert
1Neurologische Klinik, Universitätsklinik Erlangen, Deutschland. ines-christine.kiphuth@ukerlangen.de
Abstract:
Myopathies with pathological protein aggregates comprise a numerically significant group of sporadic and hereditary muscle disorders. A rare disease entity within the group of protein aggregate myopathies is the myosin storage myopathy, which is caused by heterozygous mutations in the MYH7 gene which encodes the slow/beta-myosin heavy chain. We report the clinical, myopathological and MRI findings in the first German patient suffering from a myosin storage myopathy due to a heterozygous R 1845W missense mutation.
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