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• W2073458549 abstract "<b><i>Objective:</i></b> To conduct the genotype-phenotype correlation in a family in which several individuals share clinical and electrophysiologic features of paramyotonia congenita (PC). <b><i>Background:</i></b> PC, hyperkalemic periodic paralysis (HyperPP), and potassium-aggravated myotonias form the group of hereditary sodium channelopathies. Each of these disorders is associated with different point mutations in <i>SCN4A</i>, the gene encoding the α-subunit of the adult human skeletal muscle sodium channel. However, in HyperPP families, evidence of a causative gene different from <i>SCN4A</i> has been found. <b><i>Methods:</i></b> We conducted direct clinical examination, electrophysiologic (EMG/electroneurographic) and cardiologic studies, as well as laboratory screening in several affected and nonaffected members of the family. We performed the genotype-phenotype correlation by microsatellite linkage and cDNA-mutation analyses of the <i>SCN4A</i> gene. <b><i>Results:</i></b> Affected members in this family showed clinical and electrophysiologic features typical of PC. The disease phenotype segregated with the chromosomal region that includes the <i>SCN4A</i> gene. Analysis of the entire cDNA sequence of the <i>SCN4A</i> gene in the index case disclosed a G3826A transition, which results in the Val1276Ile substitution. However, PCR–single-stranded confirmation polymorphism and direct sequencing analysis of the segment coding for Val-1276 on genomic DNA confirmed the G3826A transition in the index case but was negative in 11 affected members of the family; however, neither mutations nor aberrant splicings causative of the PC phenotype in this family were found on <i>SCN4A</i>. <b><i>Conclusion:</i></b> The existence of a second gene different from <i>SCN4A</i> that can give rise to a clinical PC phenotype can be speculated upon." @default.
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• W2073458549 date "1999-10-22" @default.
• W2073458549 modified "2023-09-27" @default.
• W2073458549 title "Lack of sodium channel mutation in an Italian family with paramyotonia congenita" @default.
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• W2073458549 doi "https://doi.org/10.1212/wnl.53.7.1549" @default.
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