CMT2A: recent interesting scientific studies published on Pubmed

malattia_ricerca_id

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. 

ITALY

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.

ZEBRAFISH TG (HB9: MTS-KAEDE): A NEW TOOL FOR STUDYING THE IN VIVO MOVEMENT OF AXONAL MITOCHONDRIA 

Bergamin G, D Cieri, Vazza G, F Argenton, Mostacciuolo ML

USA

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.

AUTOSOMAL RECESSIVE MFN2-RELATED CHARCOT-MARIE-TOOTH DISEASE WITH DIAPHRAGMATIC WEAKNESS: CASE REPORT AND LITERATURE REVIEW.

Tan CA, Rabideau M, Blevins A, Westbrook MJ, Ekstein T, Nykamp K, Deucher A, A Harper, Demmer L

UNITED KINGDOM

A study carried out in the United Kingdom by Dr Mary Relly and his team.

SEMI-DOMINANT MUTATIONS IN MFN2-RELATED NEUROPATHY AND IMPLICATIONS FOR GENETIC COUNSELING.

Tomaselli PJ, blushing AM, Polke JM, Poh R, Blake J, Reilly MM

CZECHOSLOVAKIA

A scientific study that actually brings up a new mutation of the gene MFN2.

MASSIVELY PARALLEL SEQUENCING DETECTED IN MFN2 GENE MUTATION IN THE MISSED BY SANGER SEQUENCING DUE TO A PRIMER MISMATCH ON AN SNP SITE.

Neupauerová J, Grečmalová D, Seeman P, Laššuthová P.

CANADA-AUSTRALIA

A study carried out in Canada and Australia on a new homozygous mutation MFN2.

HOMOZYGOUS MUTATIONS IN MFN2 MULTIPLE CAUSES SYMMETRIC LIPOMATOSIS ASSOCIATED WITH NEUROPATHY.

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!

Leave a Reply

Your email address will not be published.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

Join our mailing list. Always stay up to date.