Autosomal recessive nondystrophic myotonia. Report of a case with unusual clinical course.

نویسندگان

  • U C Reed
  • S K Marie
  • M W Brotto
  • C A Martinez
  • P E Marchiori
  • A Diament
  • J A Levy
چکیده

We describe the case of a girl with a probable autosomal recessive form of nondystrophic hereditary myotonia whose clinical findings are more compatible with the dominant ones mainly myotonia congenita of Thomsen or myotonia fluctuans. Besides the clinical aspects of the atypical form presented by our patient, the efficacy of the more available drugs employed for the treatment of myotonia congenita is briefly discussed.

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عنوان ژورنال:
  • Arquivos de neuro-psiquiatria

دوره 53 1  شماره 

صفحات  -

تاریخ انتشار 1995