A Novel Mutation in the Gene for the Adult Skeletal Muscle Sodium Channel α-Subunit (SCN4A) That Causes Paramyotonia Congenita of von Eulenburg
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چکیده
منابع مشابه
A novel mutation in the gene for the adult skeletal muscle sodium channel alpha-subunit (SCN4A) that causes paramyotonia congenita of von Eulenburg.
BACKGROUND Paramyotonia congenita (PMC) of von Eulenburg is an autosomal dominant muscular disease characterized by exercise- and cold-induced myotonia and weakness. To date, 18 missense mutations in the adult skeletal muscle sodium channel alpha-subunit (SCN4A) gene have been identified to cause a spectrum of muscular diseases, including PMC of von Eulenburg, PMC without cold paralysis, potass...
متن کاملHyperkalemic periodic paralysis and paramyotonia congenita caused by a de novo mutation in the SCN4A gene
Familial hyperkalemic periodic paralysis is an autosomal-dominant channelopathy characterized by reversible paralysis associated with episodic hyperkalemia. Mutations in the skeletal muscle voltage-gated sodium channel gene (SCN4A) have been reported to be responsible for this disorder. Paramyotonia congenita is also caused by mutations in the SCN4A gene. Here, we report the case of a 17-year-o...
متن کاملA defect in skeletal muscle sodium channel deactivation exacerbates hyperexcitability in human paramyotonia congenita.
1. Paramyotonia congenita (PC) is a human hereditary disorder wherein missense mutations in the skeletal muscle sodium channel lead to cold-exacerbated muscle hyperexcitability. The most common site for PC mutations is the outermost arginine of domain i.v. segment 4 (human R1448, rat R1441). 2. We examined the rat homologues of two PC mutants with changes at this site: R1441P and R1441C. The R-...
متن کاملParamyotonia congenita and skeletal sodium channelopathy.
Paramyotonia congenita, the major characteristics of which are cold-induced and exercise-induced myotonia, is an autosomal-dominant muscle disease which is classified into one of a group of muscle diseases, so-called muscle "sodium channelopathies" caused by missense mutations in the gene coding for the skeletal muscle sodium channel a-subunit (SCN4A) (1-4). Such muscle sodium channelopathies s...
متن کاملClinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy
BACKGROUND AND PURPOSE Mutations of the skeletal muscle sodium channel gene SCN4A, which is located on chromosome 17q23-25, are associated with various neuromuscular disorders that are labeled collectively as skeletal muscle sodium channelopathy. These disorders include hyperkalemic periodic paralysis (HYPP), hypokalemic periodic paralysis, paramyotonia congenita (PMC), potassium-aggravated myo...
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ژورنال
عنوان ژورنال: Archives of Neurology
سال: 1999
ISSN: 0003-9942
DOI: 10.1001/archneur.56.6.692