Who we are
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 …
Prof. Giacomo Pietro Comi, expert in diagnosis and therapy of neuromuscular diseases, as well as an authoritative member of our Scientific Committee, was elected President of the Italian Association of Myology, in the Congress held in Milan in mixed form from 1 to 4 December 2021 . AIM is a scientific society affiliated with the Italian Society of Neurology (SIN), as well as part of numerous international networks.
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!
Donate your 5 per thousand. We need your contribution to support the research!
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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The MITOFUSIN 2 ETS PROJECT ASSOCIATION was founded on 28 August 2012 by a group of relatives and friends of patients, adults and children, affected by a very rare disease.
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The section provides scientific and medical information about the disease at a level accessible to non-doctors and contains explanations and answers to frequently asked questions.
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A selection of links to sites that we consider very useful for the deepening of knowledge relating to CMT , and in particular to CMT2A .
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Our news and the latest events.
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Our projects and ongoing activities.
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