CMT2A: recent interesting studies on Pubmed

malattia_ricerca_cmt_blog

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.

KOREA

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.

http://www.ncbi.nlm.nih.gov/pubmed/24863639

ITALY

A study carried out by our Professor Comi about molecular results in adults with muscular disorders due to mitochondrial DNA instability.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4581235/

ITALY

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).

http://www.ncbi.nlm.nih.gov/pubmed/27043305

Have a good reading! We call on you to suggest and share publications you have found 

Leave a Reply

Your email address will not be published. Required fields are marked *

Join our mailing list. Always stay up to date.