نتایج جستجو برای: dreifuss
تعداد نتایج: 967 فیلتر نتایج به سال:
Emerin is the inner nuclear membrane protein involved in maintaining mechanical integrity of membrane. Mutations EMD encoding emerin cause Emery–Dreifuss muscular dystrophy (EDMD). Evidence accumulating that regulation specific gene expression associated with this disease, but exact function has not been fully elucidated. Here, we show downregulates Signal transducer and activators transcriptio...
We have performed a detailed population study of patients with genetic muscle disease in the northern region of England. Our current clinic population comprises over 1100 patients in whom we have molecularly characterized 31 separate muscle disease entities. Diagnostic clarity achieved through careful delineation of clinical features supported by histological, immunological and genetic analysis...
Emery-Dreifuss muscular dystrophy (EDMD; OMIM # 310300) is an X-linked disease characterized by early contractures of the elbows, Achilles’ tendons and posterior neck, slow progressive muscle wasting and cardiomyopathy with atrioventricular conduction block (Emery and Dreifuss, 1966; Rowland et al., 1979; Emery, 1989). Positional cloning has identified a gene on chromosome Xq28 that is mutated ...
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