Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions

Myotonia congenita (MC) is the commonest genetic skeletal muscle ion channelopathy. It is caused by mutations in CLCN1 on chromosome 7q35, which alter the function of the major skeletal muscle voltage-gated chloride channel. Dominant and recessive forms of the disease exist. We have undertaken a cli...

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Veröffentlicht in:	Brain (London, England : 1878) England : 1878), 2007-12, Vol.130 (12), p.3265-3274
Hauptverfasser:	Fialho, D., Schorge, S., Pucovska, U., Davies, N. P., Labrum, R., Haworth, A., Stanley, E., Sud, R., Wakeling, W., Davis, M. B., Kullmann, D. M., Hanna, M. G.
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Cell membranes. Ionic channels. Membrane pores Cell structures and functions channelopathy chloride channel Chloride Channels - genetics CLCN1 Cohort Studies DNA Mutational Analysis - methods Exons - genetics Female Fundamental and applied biological sciences. Psychology Gabaergic and benzodiazepinic system Genes, Dominant Genetic Testing - methods Humans Male Medical sciences Molecular and cellular biology Mutagenesis, Site-Directed Mutation myotonia congenita Myotonia Congenita - diagnosis Myotonia Congenita - genetics Neurology Neuropharmacology Neurotransmitters. Neurotransmission. Receptors Pharmacology. Drug treatments Polymorphism, Restriction Fragment Length
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