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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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Review
2009
Review
2009
Topical rubefacients for acute and chronic pain in adults.
BACKGROUND Rubefacients (containing salicylates or nicotinamides) cause irritation of the skin, and are believed to relieve… 
2004
2004
Carbon and Nitrogen Pools in a Tallgrass Prairie Soil under Elevated Carbon Dioxide
Soil is a potential C sink and could offset rising atmospheric CO 2 . The capacity of soils to store and sequester C will depend… 
Review
2004
Review
2004
Commentary: Bartlett JG, Onderdonk AB, Cisneros RL, Kasper DL. Clindamycin-associated colitis due to a toxin-producing species of Clostridium in hamsters. J Infect Dis 1977; 136:701.
The 1977 report by my colleagues and me [1], published in The Journal of Infectious Diseases, was the initial report of… 
1992
1992
Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita.
Two polymorphic dinucleotide repeats--one (dGdA)n and one (dGdT)n--have been identified at the SCN4A locus, encoding the alpha… 
1991
1991
Immediate and mid-term results of percutaneous mitral commissurotomy.
The results of percutaneous mitral commissurotomy (PMC) were assessed in a series of 600 patients (pts) with mitral stenosis… 
1986
1986
Multiple sulphatase deficiency presenting at birth
A new case of multiple sulphatase deficiency with onset at birth is described. The patient had many dysmorphic features and… 
Review
1980
Review
1980
The pathophysiology of arthrogryposis multiplex congenita neurologica.
Eleven patients with arthrogryposis multiplex congenita neurologica have been reviewed. Distinct patterns of deformity and muscle… 
Review
1969
Review
1969
Rheumatoid arthritis: extra-articular manifestations.
It is with great pleasure and with a deep sense of the honour done to me that I give this lecture in celebration and memory of… 
1963
1963
A Study of Paramyotonia Congenita
This report discusses the status of the paramyotonia congenita described by Eulenberg 1 with relation to other types of myotonia… 
Review
1950
Review
1950
Glycogen disease resembling mongolism, cretinism, and amytonia congenita; case report and review of literature.
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