Progetto Mitofusina

An important project
Here's our story

Welcome to this website dedicated to Charcot-Marie-Tooth type 2 A caused by a mutation in MITOFUSIN 2 protein, in its standard CMT2A2/HMSN2A form and in its variants (HMSN V/CMT V, HMSN VI/CMTVI, AR-CMT2). A rare genetic neuromuscular disease which causes progressive loss of movement capacities. Our aim is to provide information and find other patients to create a broad international group. We also maintain and share updated scientific information for doctors, researchers and patients.