title: Paramyotonia congenita and hyperkalemic periodic paralysis associated with a Met 1592 Val substitution in the skeletal muscle sodium channel alpha subunit--a large kindred with a novel phenotype.
abstract: Paramyotonia congenita (PC) and Hyperkalemic periodic paralysis (HyperPP) are caused by amino acid substitutions in the alpha subunit of the human skeletal muscle sodium channel. One such substitution, methionine for valine at position 1592, has been associated with HyperPP with myotonia and cold sensitivity. We report clinical, electromyographic (EMG), genetic and pathological features of a large kindred with the Met1592Val substitution. Affected members were phenotypically heterogenous and had episodic potassium-sensitive paralysis, and stiffness and weakness induced by exercise and cold, which was confirmed by EMG studies. These features indicate a combined PC-HyperPP phenotype not previously described with this mutation.
authors.affiliation: Richmond Institute of Neurology and Neurosurgery, Beaumont Hospital, Dublin, Ireland.
authors.forename: P
authors.initials: P
authors.lastname: Kelly
authors.forename: W S
authors.initials: WS
authors.lastname: Yang
authors.forename: D
authors.initials: D
authors.lastname: Costigan
authors.forename: M A
authors.initials: MA
authors.lastname: Farrell
authors.forename: S
authors.initials: S
authors.lastname: Murphy
authors.forename: O
authors.initials: O
authors.lastname: Hardiman
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D008297:Male; D008715:Methionine / Q000378:metabolism*; D018482:Muscle, Skeletal / Q000378:metabolism*; D009222:Myotonia / Q000235:genetics*; D010243:Paralysis / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D015222:Sodium Channels / Q000235:genetics*; D014633:Valine / Q000378:metabolism*
chemical_list: D015222:Sodium Channels; D008715:Methionine; D014633:Valine