We are an Italian and international group of patients suffering from a rare disease: hereditary neuropathy due to mutation of the MITOFUSIN 2 (MFN2) gene.
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Welcome to the site of Charcot-Marie-Tooth type 2A disease due to mutation of the MITOFUSIN 2 protein (in the classic form of CMT 2A2 and in its clinical variants CMT V, CMTVI, AR-CMT2). It is a very rare genetic neuromuscular disease that involves the progressive loss of movement. We want to make this disease known, to find other patients to join us to form a large international group …
The Neural Stem Cell Laboratory of the Department of Pathophysiology and Transplantation of the University of Milan, where our research project is conducted, works incessantly in search of a therapy capable of preventing the degenerative character of Charcot Marie Tooth type 2A.
This section, edited by the Department of Neurological Sciences of the University of Milan, provides scientific and medical information on CMT2A in general, specific information on its causes, the mutations identified in the Mitofusin 2 gene (see also Database) and the diagnosis. You will also find our Research Project presented
Do you know anyone, adult or child, who has these symptoms but is not yet diagnosed? Write or call us, it is very important to know how many patients with this pathology are in order to form a large group!
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