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Thomsen disease with ptosis and abnormal MR findings

Published:2016-11 Issue:11 Volume:26 Page:805-808
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Mori Yukiko,Yamashita Satoshi,Kato Mai,Masuda Teruaki,Takamatsu Koutaro,Kumamoto Toshihide,Sasaki Ryogen,Ando Yukio

Funder

Grant-in-Aid for Research on Intractable Diseases from the Ministry of Health, Labor, and Welfare of Japan

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference18 articles.

1. ClC-1 chloride channels: state-of-the-art research and future challenges;Imbrici;Front Cell Neurosci,2015

2. Membrane changes in cells from myotonia patients;Rudel;Physiol Rev,1985

3. Clinical, molecular, and functional characterization of CLCN1 Mutations in three families with recessive myotonia congenita;Portaro;Neuromolecular Med,2015

4. The muscle chloride channel ClC-1 has a double-barreled appearance that is differentially affected in dominant and recessive myotonia;Saviane;J Gen Physiol,1999

5. Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen);Steinmeyer;EMBO J,1994

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