A de novo Mutation in the SCN4A Gene Causing Sodium Channel Myotonia
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چکیده
منابع مشابه
A de novo Mutation in the SCN4A Gene Causing Sodium Channel Myotonia
We describe the case of a six year old boy with findings consistent with myotonia congenita: muscular hypertrophy, stiffness when commencing movements and typical warm-up signs. The most prominent symptom was myotonia of the eyelid muscles with apparent swelling around the eyes. Even though the pronounced warm-up phenomena in our patient suggested a chloride channel-associated myotonia congenit...
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Familial hyperkalemic periodic paralysis (HYPP) is an autosomaldominant channelopathy characterized by transient and recurrent episodes of paralysis with concomitant hyperkalemia. Mutations in the skeletal muscle voltage-gated sodium channel gene SCN4A have been reported to be responsible for this disease. Here, we report the case of a 16-year-old girl with HYPP whose mutational analysis reveal...
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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...
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متن کاملA novel SCN4A mutation causing myotonia aggravated by cold and potassium.
The single strand conformation polymorphism (SSCP) technique was used to screen genomic DNA of a family with myotonia aggravated by cold, potassium loading and suxamethonium, but without muscle weakness. An aberrant band was found in exon 24 of SCN4A, the gene encoding the adult skeletal muscle sodium channel alpha-subunit. DNA sequencing led to the detection of a G-to-A transition of cDNA nucl...
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ژورنال
عنوان ژورنال: Journal of Neuromuscular Diseases
سال: 2015
ISSN: 2214-3599,2214-3602
DOI: 10.3233/jnd-150069