نتایج جستجو برای: dreifuss
تعداد نتایج: 967 فیلتر نتایج به سال:
We present the progressive nature of the disease in a 26 year-old woman who had suffered from Emery-Dreifuss muscular dystrophy detected at the age of three. In 2002, at the age of 20, due to recurring presyncopal states accompanied by sinus bradycardia and atrioventricular block, she was implanted with a dual chamber pacing system. During testing of the pacing in 2008, permanent electrical atr...
Emery-Dreifuss muscular dystrophy has some remarkably specific features, with only cardiac and skeletal tissues being affected. Equally remarkably, the disease is caused by mutations in widely expressed genes for the nuclear membrane/lamina proteins, emerin and lamin A/C. How do mutations in proteins at the heart of the cell lead to stiff joints and sudden heart failure? This and related questi...
The need for a collaborative approach to complex inherited diseases collectively referred to as laminopathies, encouraged Italian researchers, geneticists, physicians and patients to join in the Italian Network for Laminopathies, in 2009. Here, we highlight the advantages and added value of such a multidisciplinary effort to understand pathogenesis, clinical aspects and try to find a cure for E...
Emery-Dreifuss muscular dystrophy (EDMD) is an X-linked humeroperoneal dystrophy associated with cardiomyopathy that is distinct from the Duchenne and Becker forms of X-linked muscular dystrophy. Linkage analysis has assigned EDMD to the terminal region of the human X chromosome long arm. We report here further linkage analysis in two multigenerational EDMD families using seven Xq28 marker loci...
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