Powered by OpenAIRE graph
Found an issue? Give us feedback
addClaim

[A family of paramyotonia congenita].

Authors: H, Houzen; Y, Maruo; F, Moriwaka; K, Tashiro; K, Abe;

[A family of paramyotonia congenita].

Abstract

We reported a family with paramyotonia congenita which affected six members through three generations. The homogenous clinical features presenting paramyotonia followed by flaccid tetraparesis were found in all patients. In gene analysis using patient's blood, previously identified sodium channel gene point mutations were not present, suggesting the possibility of another sodium channel gene mutation in this family.

Related Organizations
Keywords

Adult, Male, Myotonia Congenita, Humans, Infant, Point Mutation, Female, Sodium Channels

  • BIP!
    Impact byBIP!
    selected citations
    These citations are derived from selected sources.
    This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    0
    popularity
    This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
    Average
    influence
    This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    Average
    impulse
    This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
    Average
Powered by OpenAIRE graph
Found an issue? Give us feedback
selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
0
Average
Average
Average
Upload OA version
Are you the author of this publication? Upload your Open Access version to Zenodo!
It’s fast and easy, just two clicks!