Charcot-Marie-Tooth Disease Type 4C

Common Name(s)

Charcot-Marie-Tooth Disease Type 4C

Charcot-Marie-Tooth disease (CMT) is a large group of inherited peripheral neurologic disorders, meaning conditions that affect the connections between the brain and the muscles and skin. In general, CMT is characterized by the progressive loss of muscle tissue and sensation in different parts of the body, though symptoms will vary depending on the type of CMT. Symptoms classically include curled toes (claw toe), a high arched foot, loss of muscle mass in the lower leg, and increasing weakness. Symptoms of CMT typically begin in late childhood or early adulthood, but age of disease onset varies. The disease is hereditary (passed to the affected individual from one or both parents) and 1 in 2,500 individuals is affected by CMT, making it relatively common. Diagnosis of CMT is based on symptoms, nerve testing performed by a specialist, and medical tests to look for specific genetic causes. All types of CMT Type 4 are very rare. Type 4C is caused by an unknown mutation, and is characterized by child onset of CMT symptoms and early scoliosis (developing an abnormal curvature of the spine).

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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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