Charcot-Marie-Tooth Disease Type 2E

Common Name(s)

Charcot-Marie-Tooth Disease Type 2E

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

Muscle pathology without severe nerve pathology in a new mouse model of Charcot-Marie-Tooth disease type 2E.
 

Author(s): Hailian Shen, Devin M Barry, Jeffrey M Dale, Virginia B Garcia, Nigel A Calcutt, Michael L Garcia

Journal: Hum. Mol. Genet.. 2011 Jul;20(13):2535-48.

 

Mutations in neurofilament light (NF-L) have been linked to Charcot-Marie-Tooth disease type 2E (CMT2E) in humans. To provide insight into disease pathogenesis, we developed a novel line of CMT2E mice that constitutively express human NF-L (hNF-L) with a glutamic acid to lysine mutation ...

Last Updated: 9 Jun 2011

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Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton.
 

Author(s): Gian Maria Fabrizi, Tiziana Cavallaro, Chiara Angiari, Ilaria Cabrini, Federica Taioli, Giovanni Malerba, Laura Bertolasi, Nicoló Rizzuto

Journal: Brain. 2007 Feb;130(Pt 2):394-403.

 

The neurofilament light chain (NF-L) is a major constituent of intermediate filaments and plays a pivotal function in the assembly and maintenance of axonal cytoskeleton. Mutations in the NF-L gene (NEFL) cause autosomal dominant neuropathies that are classified either as axonal Charcot-Marie-Tooth ...

Last Updated: 19 Jan 2007

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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 2E" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.