title: Mutation in the S4 segment of the adult skeletal sodium channel gene in an Italian paramyotonia congenita (PC) family.
abstract: The periodic paralyses are a group of autosomal dominant muscle diseases sharing the common feature of episodic stiffness and weakness, usually occurring with muscle cooling (as in the case of paramyotonia congenita, PC phenotype) or changes in extracellular K+ levels resulting from various precipitating factors (hyperkalemic periodic paralysis, HYPP and hypokalemic periodic paralysis, HypoPP). It is now known that HYPP maps to chromosome 17q, and that PC and a form of myotonia congenita without periodic paralysis also map to the 17q locus, thus indicating that they derive from allelic variants. So far, these disorders have been described in various ethnic groups but, to our knowledge, have never been reported in Italy. We describe a mutation in an S4 segment of the adult skeletal muscle sodium channel in a clinically-defined Italian family that leads to the paramyotonia congenita (PC) phenotype with dominant autosomal inheritance and temperature-related symptoms (regional weakness following cooling and exercise), present since childhood in all of the affected family members.
authors.affiliation: Divisione di Neurologia I, Università di Milano, Ospedale Clinicizzato San Donato, Italy.
authors.forename: V
authors.initials: V
authors.lastname: Sansone
authors.forename: G
authors.initials: G
authors.lastname: Rotondo
authors.forename: L J
authors.initials: LJ
authors.lastname: Ptacek
authors.forename: G
authors.initials: G
authors.lastname: Meola
mesh_terms: D000328:Adult; D001483:Base Sequence; D004576:Electromyography; D005260:Female; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology; D009154:Mutation; D009224:Myotonia Congenita / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D011110:Polymorphism, Genetic; D015222:Sodium Channels / Q000235:genetics* / Q000378:metabolism
chemical_list: D015222:Sodium Channels