@article{532ad49814124b37844043be43d3b4c1,
title = "Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita",
abstract = "The periodic paralyses are a group of autosomal dominant muscle diseases sharing a common feature of episodic paralysis. In one form, paramyotonia congenita (PC), the paralysis usually occurs with muscle cooling. Electrophysiologic studies of muscle from PC patients have revealed temperature-dependent alterations in sodium channel (NaCh) function. This observation led to demonstration of genetic linkage of a skeletal muscle NaCh gene to a PC disease allele. We now report the use of the single-strand conformation polymorphism technique to define alleles specific to PC patients from three families. Sequencing of these alleles defined base pair changes within the same codon, which resulted in two distinct amino acid substitutions for a highly conserved arginine residue in the S4 helix of domain 4 in the adult skeletal muscle NaCh. These data establish the chromosome 17q NaCh locus as the PC gene and represent two mutations causing the distinctive, temperature-sensitive PC phenotype.",
author = "Pt{\'a}{\v c}ek, {Louis J.} and George, {Alfred L.} and Barchi, {Robert L.} and Griggs, {Robert C.} and Riggs, {Jack E.} and Margaret Robertson and Leppert, {Mark F.}",
note = "Funding Information: Theauthors aregrateful to the families who participated in these studies and to Sharon Austin, Nancy Chaney, Keith Johnson, Edward Meenen, Diane Storvick, and Minalee Woodward for technical assistance. The authors appreciate helpful discussions with Barry Ganetzky, Mark Keating, Jack Petajan, Andrew Thliv-eris, and Ray White. This investigation was supported by Na- tional Institutes of Health grants 1 Kll HD00940-01 (to L. J. P.). NS-18013 (to R. L. B.), and AR-01862 (to A. L. C.); by Public Health Service research grants MOI-RR00064 (University of Utah) and MOI-RR0004 (University of Rochester) from the National Center for Research Resources; by the Howard Hughes Medical Institute; by the Utah Technology Access Center (NIH grant 8 RO{\textquoteright}I HG00367 from the Center for Human Genome Research); and by grants from the Muscular Dystrophy Association (to L. J. P. and R. L. B.) and the PEW Charitable Trust (R. L. B.). A. L. C. is a Lucille P. Markey Scholar, and this work was supported in part by a grant from the Lucille P. Markey Charitable Trust.",
year = "1992",
month = may,
doi = "10.1016/0896-6273(92)90203-P",
language = "English (US)",
volume = "8",
pages = "891--897",
journal = "Neuron",
issn = "0896-6273",
publisher = "Cell Press",
number = "5",
}