Add to ORKGClinical, electrophysiological, and mo-lecular genetic features were investigated in two patients from a family a with domi-nantly inherited myotonic disease, char-acterised by painful cramps, stiVness without weakness, fluctuation of symp-toms, and cold sensitivity. A reduction in amplitude of the compound muscle action potential was demonstrated on cooling and administration of potassium, alth-ough no clinical exacerbation was seen. A heterozygote mutation Val1589Met was identified in the á-subunit of the skeletal muscle sodium channel gene in both patients, consistent with the diagnosis of potassium-aggravated myotonia. The phenotype in this family is much milder than that previously described in another family with a mutation at this si...
Spectrum of sodium channel disturbances in the nondystrophic myotonias and periodic paralyses. Sever...
Three men, aged 36, 16 and 66 years, had suffered for several years from muscular weakness; after a ...
Ion channels are transmembrane proteins that allow ions to flow in or out of the cell. Sodium and po...
Myotonic syndromes and periodic paralyses are rare disorders of skeletal muscle characterized mainly...
The hyperkalemic periodic paralyses are a clinically heterogeneous group of autosomal dominant syndr...
The hyperkalemic periodic paralyses are a clinically heterogeneous group of autosomal dominant syndr...
Three men, aged 36, 16 and 66 years, had suffered for several years from muscular weakness; after a ...
The cause of several familial muscular diseases have recently been linked to mutations within skelet...
Familial disorders of skeletal muscle excitability were initially described early in the last centur...
Paramyotoniacongenita is an autosomal-dominant muscle disease caused by missense mutations in SCN4A,...
BACKGROUND: Mutations in SCN4A may lead to myotonia. METHODS: Presentation of a large family with my...
AbstractAn unusual form of painful congenital myotonia is associated with a novel SCN4A mutation cau...
Sodium channel myotonia is a form of muscle channelopathy due to mutations that affect the Nav1.4 ch...
AbstractNeuromyotonia is a heterogeneous group of genetic and autoimmune channelopathies resulting i...
The recent discoveries that mutations in the genes for the skeletal muscle sodium and chloride chann...
Spectrum of sodium channel disturbances in the nondystrophic myotonias and periodic paralyses. Sever...
Three men, aged 36, 16 and 66 years, had suffered for several years from muscular weakness; after a ...
Ion channels are transmembrane proteins that allow ions to flow in or out of the cell. Sodium and po...
Myotonic syndromes and periodic paralyses are rare disorders of skeletal muscle characterized mainly...
The hyperkalemic periodic paralyses are a clinically heterogeneous group of autosomal dominant syndr...
The hyperkalemic periodic paralyses are a clinically heterogeneous group of autosomal dominant syndr...
Three men, aged 36, 16 and 66 years, had suffered for several years from muscular weakness; after a ...
The cause of several familial muscular diseases have recently been linked to mutations within skelet...
Familial disorders of skeletal muscle excitability were initially described early in the last centur...
Paramyotoniacongenita is an autosomal-dominant muscle disease caused by missense mutations in SCN4A,...
BACKGROUND: Mutations in SCN4A may lead to myotonia. METHODS: Presentation of a large family with my...
AbstractAn unusual form of painful congenital myotonia is associated with a novel SCN4A mutation cau...
Sodium channel myotonia is a form of muscle channelopathy due to mutations that affect the Nav1.4 ch...
AbstractNeuromyotonia is a heterogeneous group of genetic and autoimmune channelopathies resulting i...
The recent discoveries that mutations in the genes for the skeletal muscle sodium and chloride chann...
Spectrum of sodium channel disturbances in the nondystrophic myotonias and periodic paralyses. Sever...
Three men, aged 36, 16 and 66 years, had suffered for several years from muscular weakness; after a ...
Ion channels are transmembrane proteins that allow ions to flow in or out of the cell. Sodium and po...