We should like to bring some scientific studies we recently found on Pubmed to your attention. We divided them by country as we usually do on our website among resources where you can find a large literature about CMT2A.
An interesting study carried out in Korea: the protein Mitofusin 2 has been investigated using a sample of 607 families with Charcot-Marie-Tooth, including 160 families suffering type 2. Twenty-one different mutations in 36 families were found, 27% of whom de novo. It is worth noting that people with the same mutations show up a great diversity of clinical variety. Consequently, other factors influenced phenotype and the incursion.
A study carried out by our Professor Comi about molecular results in adults with muscular disorders due to mitochondrial DNA instability.
A study conducted by Dr Pareyson involving 520 children and young people in 8 universities and international centres to measure, using a defined scale, the degree of severity of the disease. Among them, thirty-one have CMT2A (6 % of total).
Have a good reading! We call on you to suggest and share publications you have found