Non-Dystrophic Myotonia

Known as: Non Dystrophic Myotonia 
A group of rare skeletal muscle ion-channel disorders caused by genetic mutations in the sodium and chloride channel genes. It is characterized by… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1976-2017
02419762017

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2015
2015
BACKGROUND To obtain evidence for the clinical and cost-effectiveness of treatments for patients with rare diseases is a… (More)
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2013
2013
Non-dystrophic myotonias are rare diseases caused by mutations in skeletal muscle chloride and sodium ion channels with… (More)
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2012
2012
INTRODUCTION Non-dystrophic myotonia (NDM) is characterized by myotonia without muscle wasting. A standardized quantitative… (More)
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2011
2011
INTRODUCTION Non-dystrophic myotonia (NDM) is caused by mutations in muscle chloride and sodium channels. Currently, there is no… (More)
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2009
2009
Thirty-three French-Canadian families with non-dystrophic myotonia were identified. Fifty subjects were recruited and submitted… (More)
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2008
2008
Non-dystrophic myotonias (NDMs) are caused by mutations in CLCN1 or SCN4A. The purpose of the present study was to optimize the… (More)
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2008
2008
We report on a patient with a severe, rare neonatal form of non-dystrophic myotonia. The patient presented with facial… (More)
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2007
2007
Dystrophic neurites are swollen dendrites or axons recognizable near amyloid plaques as a part of important pathological feature… (More)
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2002
2002
INTRODUCTION The ionic channels are complex glycoprotein structures, which cross the lipidic cellular membrane and allow the… (More)
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1998
1998
Duchenne muscular dystrophy (DMD) and murine X-linked muscular dystrophy (mdx) are both due to absence of the subsarcolemmal… (More)
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