Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congen...
Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype
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Publisher
Cham: Springer International Publishing
Journal title
Language
English
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Publisher
Cham: Springer International Publishing
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Scope and Contents
Contents
Mutations in the
CLCN1
gene, encoding a muscle-specific chloride channel, can cause either recessive or dominant myotonia congenita (MC). The recessive form, Becker's myotonia, is believed to be caused by two loss-of-function mutations, whereas the dominant form, Thomsen's myotonia, is assumed to be a consequence of a dominant-negative effect...
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Full title
Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype
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Record Identifier
TN_cdi_proquest_miscellaneous_66798857
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_66798857
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ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/sj.ejhg.5201218
