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Becker myotonia-a recently identified mutation in iberian descendants with apparent acetazolamide-responsive phenotype.

AuthorsSandra D Moreira, Rui Barreto, José Mário Roriz
JournalMuscle & nerve (Muscle Nerve) Vol. 51 Issue 6 Pg. 933-4 (Jun 2015) ISSN: 1097-4598 [Electronic] United States
PMID25487368 (Publication Type: Letter)
Chemical References
  • CLC-1 channel
  • Carbonic Anhydrase Inhibitors
  • Chloride Channels
  • NAV1.4 Voltage-Gated Sodium Channel
  • SCN4A protein, human
  • Acetazolamide
Topics
  • Acetazolamide (therapeutic use)
  • Aged
  • Carbonic Anhydrase Inhibitors (therapeutic use)
  • Chloride Channels (genetics)
  • Family Health
  • Female
  • Humans
  • Middle Aged
  • Muscular Dystrophy, Duchenne (drug therapy, genetics)
  • Mutation (genetics)
  • NAV1.4 Voltage-Gated Sodium Channel (genetics)
  • Phenotype

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