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  • Title: [Myosin storage myopathy: a rare subtype of protein aggregate myopathies].
    Author: Kiphuth IC, Neuen-Jacob E, Struffert T, Wehner M, Wallefeld W, Laing N, Schröder R.
    Journal: Fortschr Neurol Psychiatr; 2010 Apr; 78(4):219-22. PubMed ID: 20376763.
    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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