LMNA encodes Lamin A and C that, with B-type lamins, forms a nuclear meshwork underneath the inner nuclear membrane of the nuclear envelope. To date, over 200 mutations of LMNA are involved in more than 10 human pathologies involving clinically distinct or combined pathologies of muscle, nerve and bone as well as premature aging. The molecular etiology of these diseases as well as how mutations of a single gene encompass such a wide array of clinical presentations is still obscure. We are currently analyzing the phenotypical effect of some of these mutations in cultured cells.

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