Document Detail


Myopathy as the first symptom of hypokalemic periodic paralysis--case report of a girl from a Polish family with CACNA1S (R1239G) mutation.
MedLine Citation:
PMID:  18229654     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
PURPOSE: Presenting the case of unusual onset hypokalemic periodic paralysis (HypoPP) where myopathy had developed two years before paralysis occurred. MATERIAL AND METHODS: A Polish three-generation family with HypoPP and mutation in CACNA1S (R1239G) has been investigated. Clinical presentation with unusual onset of the disease, biopsy results and genetic research in one family member were described. CONCLUSION: HypoPP is a rare disease it needs to be taken into consideration not only in cases of paroxysmal weakness but also when there is myopathy of unknown origin.
Authors:
A Winczewska-Wiktor; B Steinborn; F Lehman-Horn; W Biczysko; M Wiktor; B Gurda; K Jurkat-Rott
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Advances in medical sciences     Volume:  52 Suppl 1     ISSN:  1896-1126     ISO Abbreviation:  Adv Med Sci     Publication Date:  2007  
Date Detail:
Created Date:  2008-01-30     Completed Date:  2008-03-04     Revised Date:  2008-05-15    
Medline Journal Info:
Nlm Unique ID:  101276222     Medline TA:  Adv Med Sci     Country:  Poland    
Other Details:
Languages:  eng     Pagination:  155-7     Citation Subset:  IM    
Affiliation:
Chair and Department of Developmental Neurology, Poznań University of Medical Sciences, Poland. awwiktor@amp.edu.pl
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Age of Onset
Calcium Channels / genetics*
Child
Child, Preschool
Female
Humans
Male
Mutation
Paralysis, Hyperkalemic Periodic / genetics*
Pedigree
Chemical
Reg. No./Substance:
0/CACNA1S protein, human; 0/Calcium Channels

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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