Charcot-Marie-Tooth Disease Type 4C

Common Name(s)

Charcot-Marie-Tooth Disease Type 4C

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Charcot-Marie-Tooth Disease Type 4C" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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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 4C" returned 2 free, full-text research articles on human participants. First 3 results:

Mistargeting of SH3TC2 away from the recycling endosome causes Charcot-Marie-Tooth disease type 4C.
 

Author(s): Rhys C Roberts, Andrew A Peden, Folma Buss, Nicholas A Bright, Morwena Latouche, Mary M Reilly, John Kendrick-Jones, J Paul Luzio

Journal: Hum. Mol. Genet.. 2010 Mar;19(6):1009-18.

 

Mutations in the functionally uncharacterized protein SH3TC2 are associated with the severe hereditary peripheral neuropathy, Charcot-Marie-Tooth disease type 4C (CMT4C). Similarly, to other proteins mutated in CMT, a role for SH3TC2 in endocytic membrane traffic has been previously ...

Last Updated: 3 Mar 2010

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Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway.
 

Author(s): Vincenzo Lupo, Máximo I Galindo, Dolores Martínez-Rubio, Teresa Sevilla, Juan J Vílchez, Francesc Palau, Carmen Espinós

Journal: Hum. Mol. Genet.. 2009 Dec;18(23):4603-14.

 

Mutations in SH3TC2 (KIAA1985) cause Charcot-Marie-Tooth disease (CMT) type 4C, a demyelinating inherited neuropathy characterized by early-onset and scoliosis. Here we demonstrate that the SH3TC2 protein is present in several components of the endocytic pathway including early endosomes, ...

Last Updated: 5 Nov 2009

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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 4C" returned 0 free, full-text review articles on human participants.

 
 
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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

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