Charcot-Marie-Tooth Disease Type 2J

Common Name(s)

Charcot-Marie-Tooth Disease Type 2J

For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 ({118210}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Charcot-Marie-Tooth Disease Type 2J" 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 2J" returned 1 free, full-text research articles on human participants. First 3 results:

Parasympathetic Dominant Autonomic Dysfunction in Charcot-Marie-Tooth Disease Type 2J with the MPZ Thr124Met Mutation.
 

Author(s): Naoki Tokuda, Yu-Ichi Noto, Fukiko Kitani-Morii, Ai Hamano, Takashi Kasai, Kensuke Shiga, Ikuko Mizuta, Fumitoshi Niwa, Masanori Nakagawa, Toshiki Mizuno

Journal: Intern. Med.. 2015 ;54(15):1919-22.

 

We herein report the case of a 69-year-old woman with Charcot-Marie-Tooth Disease type 2J (CMT2J) who presented with Adie's pupil, deafness, and urinary disturbance in addition to motor symptoms. On autonomic investigation, the coefficient of variation of the R-R intervals was decreased, ...

Last Updated: 3 Aug 2015

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Reviews from the PubMed Database

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The terms "Charcot-Marie-Tooth Disease Type 2J" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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