Charcot-Marie-Tooth Disease Type 2A

Common Name(s)

Charcot-Marie-Tooth Disease Type 2A, Distal hereditary motor neuronopathy type 2A

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

MFN2 agonists reverse mitochondrial defects in preclinical models of Charcot-Marie-Tooth disease type 2A.
 

Author(s): Agostinho G Rocha, Antonietta Franco, Andrzej M Krezel, Jeanne M Rumsey, Justin M Alberti, William C Knight, Nikolaos Biris, Emmanouil Zacharioudakis, James W Janetka, Robert H Baloh, Richard N Kitsis, Daria Mochly-Rosen, R Reid Townsend, Evripidis Gavathiotis, Gerald W Dorn

Journal: Science. 2018 04;360(6386):336-341.

 

Mitofusins (MFNs) promote fusion-mediated mitochondrial content exchange and subcellular trafficking. Mutations in cause neurodegenerative Charcot-Marie-Tooth disease type 2A (CMT2A). We showed that MFN2 activity can be determined by Met and His interactions with Asp and Leu and ...

Last Updated: 31 Dec 1969

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Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta.
 

Author(s): C Zhao, J Takita, Y Tanaka, M Setou, T Nakagawa, S Takeda, H W Yang, S Terada, T Nakata, Y Takei, M Saito, S Tsuji, Y Hayashi, N Hirokawa

Journal: Cell. 2001 Jun;105(5):587-97.

 

The kinesin superfamily motor protein KIF1B has been shown to transport mitochondria. Here, we describe an isoform of KIF1B, KIF1Bbeta, that is distinct from KIF1B in its cargo binding domain. KIF1B knockout mice die at birth from apnea due to nervous system defects. Death of knockout ...

Last Updated: 31 Dec 1969

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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 2A" 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: 12 Sep 2017

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Muscle MRI in Charcot Mary Tooth Disease: a Prospective Cohort Study
 

Status: Recruiting

Condition Summary: Charcot-Marie-Tooth Disease, Type IA; Charcot-Marie-Tooth Disease Type 2A; Charcot-Marie-Tooth Disease, Type IB; Charcot-Marie-Tooth Disease, Type X

 

Last Updated: 3 Oct 2018

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