Charcot-Marie-Tooth Disease Type 1B

Common Name(s)

Charcot-Marie-Tooth Disease Type 1B, Peroneal Muscular Atrophy

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Charcot-Marie-Tooth Disease Type 1B" for support, advocacy or research.

Logo
Muscular Dystrophy Association

MDA is the nonprofit health agency dedicated to curing muscular dystrophy, ALS and related diseases by funding worldwide research. The Association also provides comprehensive health care and support services, advocacy and education.

http://www.mdausa.org

Last Updated: 8 Mar 2010

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Charcot-Marie-Tooth Disease Type 1B" for support, advocacy or research.

Logo
Muscular Dystrophy Association

MDA is the nonprofit health agency dedicated to curing muscular dystrophy, ALS and related diseases by funding worldwide research. The Association also provides comprehensive health care and support services, advocacy and education.

http://www.mdausa.org

Last Updated: 8 Mar 2010

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Charcot-Marie-Tooth Disease Type 1B" returned 3 free, full-text research articles on human participants. First 3 results:

Resetting translational homeostasis restores myelination in Charcot-Marie-Tooth disease type 1B mice.
 

Author(s): Maurizio D'Antonio, Nicolò Musner, Cristina Scapin, Daniela Ungaro, Ubaldo Del Carro, David Ron, M Laura Feltri, Lawrence Wrabetz

Journal: J. Exp. Med.. 2013 Apr;210(4):821-38.

 

P0 glycoprotein is an abundant product of terminal differentiation in myelinating Schwann cells. The mutant P0S63del causes Charcot-Marie-Tooth 1B neuropathy in humans, and a very similar demyelinating neuropathy in transgenic mice. P0S63del is retained in the endoplasmic reticulum ...

Last Updated: 9 Apr 2013

Go To URL
A patient with neurofibromatosis type 1 and Charcot-Marie-Tooth disease type 1B.
 

Author(s): Eric Lancaster, Lauren B Elman, Steven S Scherer

Journal: Muscle Nerve. 2010 Apr;41(4):555-8.

 

We describe a patient with both neurofibromatosis type 1 and Charcot-Marie-Tooth disease type 1B. Although one might expect an overwhelming tumor burden due to the combination of these two disorders, the two mutations did not appear to interact.

Last Updated: 30 Mar 2010

Go To URL
Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B.
 

Author(s): E Nelis, V Timmerman, P De Jonghe, L Muylle, J J Martin, C Van Broeckhoven

Journal: J. Med. Genet.. 1994 Oct;31(10):811-5.

 

Charcot-Marie-Tooth disease type 1 (CMT1) or hereditary motor and sensory neuropathy type I (HMSNI) is an autosomal dominant peripheral neuropathy. In most families the disease segregates with a 1.5 Mb duplication on chromosome 17p11.2 (CMT1A). A few patients have been found with ...

Last Updated: 24 Feb 1995

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Charcot-Marie-Tooth Disease Type 1B" returned 0 free, full-text review articles on human participants.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and Others
 

Status: Recruiting

Condition Summary: Charcot Marie Tooth Disease

 

Last Updated: 25 Mar 2014

Go to URL