An important project

Here is our story

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 …


A possible therapeutic approach identified

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.

The importance of research

Latest updates

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

let’s keep in touch

Support us

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!

Donate your 5 per thousand. We need your contribution to support the research!

Latest News