We would like to bring some scientific studies about CMT2A we recently found on Pubmedto your attention. We divided them by country as we usually do on our website, in the section Resources, where you can find a large literature about Charcot-Marie-Tooth type 2A.
A scientific study about zebrafish carried out in the Department of Biology of the University of Padua by Dr Bergamin, Dr Mostacciuolo and their team.
Bergamin G, D Cieri, Vazza G, F Argenton, Mostacciuolo ML
A scientific study about a seven months child suffering from CMT2A with a very severe mutation, autosomal recessive, carried out in California and North Carolina.
Tan CA, Rabideau M, Blevins A, Westbrook MJ, Ekstein T, Nykamp K, Deucher A, A Harper, Demmer L
A study carried out in the United Kingdom by Dr Mary Relly and his team.
Tomaselli PJ, blushing AM, Polke JM, Poh R, Blake J, Reilly MM
A scientific study that actually brings up a new mutation of the gene MFN2.
Neupauerová J, Grečmalová D, Seeman P, Laššuthová P.
A study carried out in Canada and Australia on a new homozygous mutation MFN2.
Sawyer SL, Ng Cheuk-Him A, Innes AM, Wagner JD, Dyment DA, Tetreault M; Care4Rare Canada Consortium, J Majewski, Boycott KM, Screaton RA, G. Nicholson
We invite you to enjoy reading and to suggest or share with us any interesting studies that you have found!