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Department of Neurology (Dr. Ptacek) and Howard Hughes Medical Institute and Department of Human Genetics (Drs. Ptacek and Leppert), University of Utah School of Medicine, Salt Lake City, UT; and the Department of Neurology (Drs. Tawil and Griggs, and D. Storvick), University of Rochester School of Medicine, Rochester, NY.
We performed linkage analysis in a pedigree segregating an allele for autosomal dominant, painful myotonia that is potassium sensitive and responsive to acetazolamide. This allele was tightly linked to a skeletal-muscle, sodium channel locus which is now a candidate for the site of the mutational defect in acetazolamide-responsive myotonia congenita. Since this sodium channel locus is completely linked to the disease allele in all hyperkalemic periodic paralysis and paramyotonia congenita pedigrees studied, the molecular alteration causing acetazolamide-responsive myotonia congenita is likely an allelic defect in this human, skeletal-muscle, sodium channel gene.
Address correspondence and reprint requests to Dr. Louis J. Ptacek, Department of Neurology 3R210, University of Utah School of Medicine, 50 N. Medical Drive, Salt Lake City, UT 84132.
Supported by the Howard Hughes Medical Institute, by NIH grant no. 8 R01 HG00367 from the Center for Human Genome Research, by Public Health Service research grants no. M01-RR00064 and RR0004 from the National Center for Research Resources, and by a Neuromuscular Fellowship grant from the Muscular Dystrophy Association (L.P.).
Received June 10, 1991. Accepted for publication in final form July 22, 1991.
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