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首页> 外文期刊>journal of submicroscopic cytology and pathology >Localization of merosin in the normal human brain: Implications for congenital muscular dystrophy with merosin deficiency
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Localization of merosin in the normal human brain: Implications for congenital muscular dystrophy with merosin deficiency

机译：Localization of merosin in the normal human brain: Implications for congenital muscular dystrophy with merosin deficiency

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abstract_textpA particular form of congenital muscular dystrophy with merosin deficiency has recently been described. Magnetic resonance imaging has shown that affected children show brain abnormalities. We investigate the localization of merosin in the normal human brain by immunohistochemistry. Other organs, such as the kidney, lung and liver, were also included in this study. We show that in the normal central nervous system merosin is localized in the basement membrane of blood vessels. No expression of merosin was found at the level of the liver and lungs, whereas the glomerular mesangial matrix of the kidney was intensely positive. These results suggest that merosin deficiency in the basement membrane of blood vessels in the central nervous system could play an important role in the physiopathology of brain abnormalities found in children affected by the congenital muscular dystrophy associated with merosin deficiency. Furthermore, the potential absence of merosin in the glomerular mesangial matrix of the kidney suggests a multisystem involvement./p/abstract_text

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