title: Becker myotonia-a recently identified mutation in iberian descendants with apparent acetazolamide-responsive phenotype.
authors.affiliation: Neurology Department, Centro Hospitalar Entre Douro e Vouga, Santa Maria da Feira, Portugal.
authors.forename: Sandra D
authors.initials: SD
authors.lastname: Moreira
authors.affiliation: Neurology Department, Centro Hospitalar Entre Douro e Vouga, Santa Maria da Feira, Portugal.
authors.forename: Rui
authors.initials: R
authors.lastname: Barreto
authors.affiliation: Neurology Department, Centro Hospitalar Entre Douro e Vouga, Santa Maria da Feira, Portugal.
authors.forename: José Mário
authors.initials: JM
authors.lastname: Roriz
mesh_terms: D000086:Acetazolamide / Q000627:therapeutic use*; D000368:Aged; D002257:Carbonic Anhydrase Inhibitors / Q000627:therapeutic use*; D018118:Chloride Channels / Q000235:genetics*; D005192:Family Health; D005260:Female; D006801:Humans; D008875:Middle Aged; D020388:Muscular Dystrophy, Duchenne / Q000188:drug therapy* / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D062553:NAV1.4 Voltage-Gated Sodium Channel / Q000235:genetics; D010641:Phenotype
chemical_list: C086321:CLC-1 channel; D002257:Carbonic Anhydrase Inhibitors; D018118:Chloride Channels; D062553:NAV1.4 Voltage-Gated Sodium Channel; C106251:SCN4A protein, human; D000086:Acetazolamide