Web1. jan 2009 · Hereditary inclusion body myopathy (HIBM) is an adult onset, slowly progressive distal and proximal myopathy. Although the causing gene, GNE, encodes for a … WebThe portal for rare diseases and orphan drugs

spheroid body myopathy

WebSpheroid body myopathy. Spheroid body myopathy is a rare form of myofibrillar myopathy characterized by predominantly proximal muscle weakness (that could be either non- or … WebSeveral missense mutations in the Z-band protein, myotilin, have been implicated in human muscle diseases such as myofibrillar myopathy, spheroid body myopathy, and distal myopathy. Recently,... first american title april egbert

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Web27. dec 2005 · Background: Spheroid body myopathy (SBM) is a rare, autosomal dominant, neuromuscular disorder, which has only been previously reported in a single large kindred. … WebThe only specialty specific source of rare disease education and information. Our mission is to inform the healthcare community about the diagnosis and management of rare diseases. WebSpheroid body myopathy is a rare form of myofibrillar myopathy characterized by predominantly proximal muscle weakness (that could be either non- or slowly … first american title albany county