Heart to heart: from nuclear proteins to Emery-Dreifuss muscular dystrophy.
نویسندگان
چکیده
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 questions are the subject of this review.
منابع مشابه
Emery-Dreifuss Muscular Dystrophy: a Report of a Large Family with 11 Affected Individuals
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عنوان ژورنال:
- Human molecular genetics
دوره 8 10 شماره
صفحات -
تاریخ انتشار 1999