Autosomal recessive nondystrophic myotonia report of a case with unusual clinical course: relato de um caso com aspectos clínicos atípicos

Detalhes bibliográficos
Autor(a) principal: Reed,Umbertina C.
Data de Publicação: 1995
Outros Autores: Marie,Suely K. Nagahashi, Brotto,Mario Wilson I., Martinez,Carlos Alberto, Marchiori,Paulo E., Diament,Aron, Levy,José Antonio
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Arquivos de neuro-psiquiatria (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1995000100017
Resumo: 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 .
id ABNEURO-1_bf071ffcc3ab641662e17a94746493ba
oai_identifier_str oai:scielo:S0004-282X1995000100017
network_acronym_str ABNEURO-1
network_name_str Arquivos de neuro-psiquiatria (Online)
repository_id_str
spelling Autosomal recessive nondystrophic myotonia report of a case with unusual clinical course: relato de um caso com aspectos clínicos atípicosmyotonia congenitamyotonia congenita of Beckermyotonia congenita of Thomsenmyotonia fluctuansantimyotonic treatmentWe 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 .Academia Brasileira de Neurologia - ABNEURO1995-03-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1995000100017Arquivos de Neuro-Psiquiatria v.53 n.1 1995reponame:Arquivos de neuro-psiquiatria (Online)instname:Academia Brasileira de Neurologiainstacron:ABNEURO10.1590/S0004-282X1995000100017info:eu-repo/semantics/openAccessReed,Umbertina C.Marie,Suely K. NagahashiBrotto,Mario Wilson I.Martinez,Carlos AlbertoMarchiori,Paulo E.Diament,AronLevy,José Antonioeng2011-01-19T00:00:00Zoai:scielo:S0004-282X1995000100017Revistahttp://www.scielo.br/anphttps://old.scielo.br/oai/scielo-oai.php||revista.arquivos@abneuro.org1678-42270004-282Xopendoar:2011-01-19T00:00Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologiafalse
dc.title.none.fl_str_mv Autosomal recessive nondystrophic myotonia report of a case with unusual clinical course: relato de um caso com aspectos clínicos atípicos
title Autosomal recessive nondystrophic myotonia report of a case with unusual clinical course: relato de um caso com aspectos clínicos atípicos
spellingShingle Autosomal recessive nondystrophic myotonia report of a case with unusual clinical course: relato de um caso com aspectos clínicos atípicos
Reed,Umbertina C.
myotonia congenita
myotonia congenita of Becker
myotonia congenita of Thomsen
myotonia fluctuans
antimyotonic treatment
title_short Autosomal recessive nondystrophic myotonia report of a case with unusual clinical course: relato de um caso com aspectos clínicos atípicos
title_full Autosomal recessive nondystrophic myotonia report of a case with unusual clinical course: relato de um caso com aspectos clínicos atípicos
title_fullStr Autosomal recessive nondystrophic myotonia report of a case with unusual clinical course: relato de um caso com aspectos clínicos atípicos
title_full_unstemmed Autosomal recessive nondystrophic myotonia report of a case with unusual clinical course: relato de um caso com aspectos clínicos atípicos
title_sort Autosomal recessive nondystrophic myotonia report of a case with unusual clinical course: relato de um caso com aspectos clínicos atípicos
author Reed,Umbertina C.
author_facet Reed,Umbertina C.
Marie,Suely K. Nagahashi
Brotto,Mario Wilson I.
Martinez,Carlos Alberto
Marchiori,Paulo E.
Diament,Aron
Levy,José Antonio
author_role author
author2 Marie,Suely K. Nagahashi
Brotto,Mario Wilson I.
Martinez,Carlos Alberto
Marchiori,Paulo E.
Diament,Aron
Levy,José Antonio
author2_role author
author
author
author
author
author
dc.contributor.author.fl_str_mv Reed,Umbertina C.
Marie,Suely K. Nagahashi
Brotto,Mario Wilson I.
Martinez,Carlos Alberto
Marchiori,Paulo E.
Diament,Aron
Levy,José Antonio
dc.subject.por.fl_str_mv myotonia congenita
myotonia congenita of Becker
myotonia congenita of Thomsen
myotonia fluctuans
antimyotonic treatment
topic myotonia congenita
myotonia congenita of Becker
myotonia congenita of Thomsen
myotonia fluctuans
antimyotonic treatment
description 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 .
publishDate 1995
dc.date.none.fl_str_mv 1995-03-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1995000100017
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1995000100017
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S0004-282X1995000100017
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Academia Brasileira de Neurologia - ABNEURO
publisher.none.fl_str_mv Academia Brasileira de Neurologia - ABNEURO
dc.source.none.fl_str_mv Arquivos de Neuro-Psiquiatria v.53 n.1 1995
reponame:Arquivos de neuro-psiquiatria (Online)
instname:Academia Brasileira de Neurologia
instacron:ABNEURO
instname_str Academia Brasileira de Neurologia
instacron_str ABNEURO
institution ABNEURO
reponame_str Arquivos de neuro-psiquiatria (Online)
collection Arquivos de neuro-psiquiatria (Online)
repository.name.fl_str_mv Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologia
repository.mail.fl_str_mv ||revista.arquivos@abneuro.org
_version_ 1754212749052739584

Registros relacionados