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Detecting Collagen VI in Bethlem Myopathy Letters
Zamurs et al. (1) investigated the functional consequences of a homozygous COL6A2 p.D871N mutation in muscle biopsy and fibroblast cultures of a recessive Bethlem myopathy patient. The authors reported the absence of collagen VI (col6) in muscle biopsy, a pattern considered distinctive for Ullrich congenital muscular dystrophy (UCMD). This finding appears inconsistent with the data provided for the patient's skin fibroblasts, which clearly show that col6 was secreted in the extracellular matrix (1). Moreover, other authors showed that recessive mutations in the α2(VI) C2 domain, with consequences similar to those reported...
Source: Journal of Biological Chemistry - March 20, 2015 Category: Chemistry Authors: Sabatelli, P., Gualandi, F., Bonaldo, P., Merlini, L. Tags: Letters Source Type: research

C4d Staining as Immunohistochemical Marker in Inflammatory Myopathies
The diagnosis of an inflammatory myopathy is often established based on basic histologic studies. Additional immunohistochemical studies are sometimes required to support the diagnosis and the classification of inflammatory myopathies. Staining for major histocompatibility complex 1 (MHC1) often shows increased sarcolemmal labeling in inflammatory myopathies. Endomysial capillary staining C5b-9 (membrane attack complex) is a feature that is reported as frequently associated with dermatomyositis. Immunohistochemical staining for C4d is widely used for various applications including the assessment of antibody-mediated reject...
Source: Applied Immunohistochemistry and Molecular Morphology - October 1, 2014 Category: Chemistry Tags: Research Articles Source Type: research