Clinical And Immunopathological Characteristics Of Ullrich Type Congenital Muscular Dystrophy With Selective Loss Of Type Vi Collagen Sarcolemma
Keywords
Ullrich Congenital Muscular Dystrophy, Type Vi Collagen, Selective Loss Of Sarcolemma, Biopsy, Double Immunofluorescence Staining
Abstract
Objective To explore the clinical and immunopathological characteristics of Ullrich congenital muscular dystrophy (UCMD) with selective loss of type VI collagen sarcolemma. Methods The clinical data of 2 patients with UCMD with selective loss of type VI collagen sarcolemma were collected, muscle biopsies were performed, and the specimens were subjected to type VI collagen immunofluorescence staining and type VI collagen/type IV collagen double immunofluorescence staining, and the pathological results were analyzed. analyze. Results Neonatal hypotonia, proximal joint contracture and distal joint hyperelasticity are the clinical characteristics of UCMD with selective loss of type VI collagen sarcolemma. Anti-type VI collagen immunofluorescence staining showed that both patients had partial loss of type VI collagen expression. Double immunofluorescence staining of type VI collagen/type IV collagen showed selective loss of expression of type VI collagen in the sarcolemma. Conclusion UCMD with selective loss of type VI collagen sarcolemma is clinically characterized by proximal joint contracture and distal joint hyperelasticity. There is no significant difference in clinical severity between patients with complete loss of type VI collagen. Double immunofluorescence staining suggested that the selective loss of type VI collagen expression on the sarcolemma was an immunopathological feature.
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Original research was done by Lu Jun, Zhu Wenhua, Lu Jiahong, Zhao Chongbo, Lin Jie, Xi Jianying
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