Charcot-Marie-Tooth Disease Type 4A

Common Name(s)

Charcot-Marie-Tooth Disease Type 4A

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

Cell expression of GDAP1 in the nervous system and pathogenesis of Charcot-Marie-Tooth type 4A disease.
 

Author(s): Laia Pedrola, Antonio Espert, Teresa Valdés-Sánchez, Maribel Sánchez-Piris, Erich E Sirkowski, Steven S Scherer, Isabel Fariñas, Francesc Palau

Journal: J. Cell. Mol. Med.. 2008 Apr;12(2):679-89.

 

Mutations in the mitochondrial protein GDAP1 are the cause of Charcot-Marie-Tooth type 4A disease (CMT4A), a severe form of peripheral neuropathy associated with either demyelinating, axonal or intermediate phenotypes. GDAP1 is located in the outer mitochondrial membrane and it seems ...

Last Updated: 18 Apr 2008

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Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect.
 

Author(s): R Claramunt, L Pedrola, T Sevilla, A López de Munain, J Berciano, A Cuesta, B Sánchez-Navarro, J M Millán, G M Saifi, J R Lupski, J J Vílchez, C Espinós, F Palau

Journal: J. Med. Genet.. 2005 Apr;42(4):358-65.

 

Last Updated: 4 Apr 2005

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GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria.
 

Author(s): Laia Pedrola, Antonio Espert, Xingyao Wu, Reyes Claramunt, Michael E Shy, Francesc Palau

Journal: Hum. Mol. Genet.. 2005 Apr;14(8):1087-94.

 

Mutations in GDAP1, the ganglioside-induced differentiation-associated protein 1 gene, cause Charcot-Marie-Tooth (CMT) type 4A, a severe autosomal recessive form of neuropathy associated with either demyelinating or axonal phenotypes. Here, we demonstrate that GDAP1 has far greater ...

Last Updated: 13 Apr 2005

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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 4A" 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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