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Paramyotonia Congenita (disorder)

Known as: PMC, Paramyotonia Congenita of von Eulenburg, EULENBURG DISEASE 
An autosomal dominant inherited non-dystrophic myotonia caused by mutations of the SCN4A gene, resulting in sodium muscle channelopathy. It is… 
National Institutes of Health

Related topics

Related topics

10 relations
Autosomal dominant inheritanceConnective and Soft TissueDystrophia myotonica 2Muscle hypertrophy

Broader (1)

Myotonic Disorders

Papers overview

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Highly Cited
2016
Highly Cited
2016
A Clinical Framework to Facilitate Risk Stratification When Considering an Active Surveillance Alternative to Immediate Biopsy and Surgery in Papillary Microcarcinoma.
BACKGROUND The 2015 American Thyroid Association thyroid cancer management guidelines endorse an active surveillance management… 
Highly Cited
2015
Highly Cited
2015
Whole-genome sequencing provides new insights into the clonal architecture of Barrett’s esophagus and esophageal adenocarcinoma
The molecular genetic relationship between esophageal adenocarcinoma (EAC) and its precursor lesion, Barrett's esophagus, is… 
Highly Cited
2013
Highly Cited
2013
Clinicopathologic correlations in 172 cases of rapid eye movement sleep behavior disorder with or without a coexisting neurologic disorder.
Review
2010
Review
2010
Physiology of bone loss.
Highly Cited
2010
Highly Cited
2010
Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP
Highly Cited
2009
Highly Cited
2009
Effect of genetic variation in the organic cation transporter 2 on the renal elimination of metformin
Objective The goal of this study was to determine the effect of a genetic variant in the organic cation transporter 2 (OCT2… 
Highly Cited
2008
Highly Cited
2008
Mandible matrix necrosis in beagle dogs after 3 years of daily oral bisphosphonate treatment.
Highly Cited
2006
Highly Cited
2006
Parallel asynchronous particle swarm optimization
The high computational cost of complex engineering optimization problems has motivated the development of parallel optimization… 
Highly Cited
1994
Highly Cited
1994
Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation
Highly Cited
1992
Highly Cited
1992
Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita
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