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Can I read Linkage Data Suggesting Allelic Heterogeneity for Paramyotonia Congenita and Hyperkalemic Periodic Paralysis on Chromosome 17 on EtoBox?
Linkage Data Suggesting Allelic Heterogeneity for Paramyotonia Congenita and Hyperkalemic Periodic Paralysis on Chromosome 17 by Manuela C. Koch; Kenneth Ricker; Michael Otto; Tiemo Grimm; Klaus Bender; Barbara Zoll; Peter S. Harper; Frank Lehmann-Horn; Reinhardt Rüdel; Eric P. Hoffman is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.
What is Linkage Data Suggesting Allelic Heterogeneity for Paramyotonia Congenita and Hyperkalemic Periodic Paralysis on Chromosome 17 about?
Paramyotonia congenita (PC), an autosomal dominant non-progressive muscle disorder, is characterised by cold-induced stiffness followed by muscle weakness. The weakness is caused by a dysfunction of the sodium channel in muscle fibre. Parts of the gene coding for the alpha-subunit of the sodium channel of the adult human skeletal muscle (SCN4A) have been localised on chromosome 17. To investigate the role of this gene in the etiology of PC, a linkage analysis in 17 well-defined families was carried out. The results (zeta = 20.61, theta = 0.001) show that the mutant gene responsible for the disorder is indeed tightly linked to the SCN4A gene. The mutation causing hyperkalemic periodic paralysis (HyperPP) with myotonia has previously been mapped to this gene locus by the same candidate gene approach. Thus, our data suggest that PC and HyperPP are caused by allelic mutations at a single locus on chromosome 17.
Who reads Linkage Data Suggesting Allelic Heterogeneity for Paramyotonia Congenita and Hyperkalemic Periodic Paralysis on Chromosome 17?
It is typically read by researchers, students, and practitioners in Biochemistry, Genetics and Molecular Biology.
- Author
- Manuela C. Koch; Kenneth Ricker; Michael Otto; Tiemo Grimm; Klaus Bender; Barbara Zoll; Peter S. Harper; Frank Lehmann-Horn; Reinhardt Rüdel; Eric P. Hoffman
- Publisher
- Springer; Springer-Verlag; Springer Verlag; Springer Science and Business Media LLC; Society for Mining, Metallurgy and Exploration Inc. (ISSN 0340-6717)
- Published
- 1991
- Language
- EN
- Field
- Biochemistry, Genetics and Molecular Biology (Life Sciences)