A Window Into the Myofibrillar Myopathy Proteome

Myofibrillar myopathy is a pathologically diagnosed myopathy encompassing a clinically and genetically heterogeneous group of myopathies that share common histopathologic features of dissolution of myofibrils, accumulation of myofibrillar degradation products, and ectopic expression of multiple proteins.1 Patients with myofibrillar myopathy present with progressive proximal or distal predominant weakness at a variable age at onset, ranging from childhood to late adulthood. Cardiomyopathy and peripheral neuropathy are frequent extramuscular manifestations. To date, mutations in more than 10 genes underlie myopathies with myofibrillar pathology, most of which encodes Z disc–associated proteins or proteins involving in chaperon-assisted selective autophagy.1

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