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Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene.

Abstract:

The hyperkalemic periodic paralyses are a clinically heterogeneous group of autosomal dominant syndromes characterized by episodic paralysis associated with an elevated serum potassium level. Affected individuals in the same family tend to have homogeneous symptom complexes, although phenotypic variation is present among different families. For example, myotonia is absent in some pedigrees, present in others, and, in a third variant, paramyotonia congenita, myotonia coexists with cold-induced...

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Publication status:
Published

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Publisher copy:
10.1002/ana.410300610

Authors


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Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Neuroscience, WTC Human Genetics
George, AL More by this author
Barchi, RL More by this author
Ting-Passador, SS More by this author
Kallen, RG More by this author
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Journal:
Annals of neurology
Volume:
30
Issue:
6
Pages:
810-816
Publication date:
1991-12-05
DOI:
EISSN:
1531-8249
ISSN:
0364-5134
URN:
uuid:c720f925-df3d-4459-bab0-30bb9a2ef0ec
Source identifiers:
33561
Local pid:
pubs:33561

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