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Myofibrillar Myopathies: A Clinical and Myopathological Guide

10 Jun 2009

Abstract excerpt

Myofibrillar myopathies (MFMs) are histopathologically characterized by desmin-positive protein aggregates and myofibrillar degeneration. Because of the marked phenotypic and pathomorphological variability, establishing the diagnosis of MFM can be a challenging task. While MFMs are partly caused by mutations in genes encoding for extramyofibrillar proteins (desmin, alphaB-crystallin, plectin) or myofibrillar...

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PMID: 19563540
DOI: 10.1111/j.1750-3639.2009.00289.x

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