title: Myotonia associated with caveolin-3 mutation.
abstract: BACKGROUND
  Caveolin-3 is a major component of the caveolae in skeletal and cardiac muscle. Mutations in the caveolin-3 gene (CAV3) lead to a spectrum of clinical phenotypes including limb-girdle muscular dystrophy 1C, distal myopathy, rippling muscle disease, isolated hyperCKemia, and cardiomyopathy.
  
  
  METHODS
  A 24-year-old man with myalgia, muscle stiffness, and fatigue has normal strength and prominent myotonic discharges in the gastrocnemius. He also has epilepsy. He harbors a heterozygous CAV3 mutation, p.V57M. He has no mutations in CLCN1 and SCN4A, and he had normal genetic testing for myotonic dystrophy type 1 and type 2.
  
  
  CONCLUSIONS
  Mutations in CAV3, and in particular p.V57M in CAV3, previously reported in isolated familial hyperCKemia, can be associated with electrical myotonia.
authors.affiliation: Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA. milone.margherita@mayo.edu
authors.forename: Margherita
authors.initials: M
authors.lastname: Milone
authors.forename: Kathleen M
authors.initials: KM
authors.lastname: McEvoy
authors.forename: Eric J
authors.initials: EJ
authors.lastname: Sorenson
authors.forename: Jasper R
authors.initials: JR
authors.lastname: Daube
mesh_terms: D000328:Adult; D051244:Caveolin 3 / Q000235:genetics* / Q000378:metabolism; D004576:Electromyography; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000378:metabolism / Q000503:physiopathology; D009222:Myotonia / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology
chemical_list: D051244:Caveolin 3