Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Charcot-Marie-Tooth disease type 2B1


Other Names for this Disease
  • CMT 2B1
  • Charcot-Marie-Tooth disease, axonal, Type 2B1
  • Charcot-Marie-Tooth disease, neuronal, Type 2B1
  • Charcot Marie Tooth disease type 2B1
  • AR-CMT2B1
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

News & Events


ORDR Co-Sponsored Conferences

  • 2016 Rare Disease Day at NIH, Monday, February 29, 2016
    Location: Building 10, Masur Auditorium, National Institutes of Health, Bethesda, MD
    Description: The 2016 Rare Disease Day at NIH will take place on February 29. The event, sponsored by NCATS and the NIH Clinical Center, aims to raise awareness about rare diseases, the patients they affect and the research collaborations that are addressing rare disease challenges. The day will feature tours, posters and exhibits, and presentations.

  • Gordon Research Conference – Intermediate Filaments, Saturday, June 14, 2014 - Friday, June 20, 2014
    Location: Mount Snow Resort, West Dover, VT
    Description: <p>The 2014 GRC-Intermediate Filaments will include short talks, discussions, and poster presentations from the leaders in the field. It will provides several functional perspectives with an emphasis on the paradigm shifting notion that IFs are not only structural proteins but also play essential roles as signaling organizers and buffers of cellular stress, which contribute to number of disease pathologies. There will be robust discussions on how mutations in the IF genes encoding these IF proteins are responsible for rare diseases, such as epidermolysis bullosa simplex (EBS), but extending into the entire list of rare diseases outlined above.<span>&nbsp; </span>Discussions will be focused on how cell biology and physiology efforts are providing unique therapeutic approaches to the highly complex disorders, such as those caused by lamin A/C gene mutations, which are involved in Progeria.</p>

Other Names for this Disease
  • CMT 2B1
  • Charcot-Marie-Tooth disease, axonal, Type 2B1
  • Charcot-Marie-Tooth disease, neuronal, Type 2B1
  • Charcot Marie Tooth disease type 2B1
  • AR-CMT2B1
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.