Carrier detection of duchenne and becker muscular dystrophy using muscle dystrophin immunohistochemistry
Autor(a) principal: | |
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Data de Publicação: | 1992 |
Outros Autores: | , , , , , |
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=S0004-282X1992000400010 |
Resumo: | To ascertain whether dystrophin immunohistochemistry could improve DMD/ BMD carrier detection, we analyzed 14 muscle biopsies from 13 DMD and one BMD probable and possible carriers. All women were also evaluated using conventional methods, including genetic analysis, clinical and neurological evaluation, serum CK levels, KMG, and muscle biopsy. In 6 cases, there was a mosaic of dystrophin-positive and dystrophin-deficient fibers that allowed to make the diagnosis of a carrier state. Comparing dystrophin immunohistochemistry to the traditional methods, it was noted that this method is less sensitive than serum CK measuremens, but is more sensitive than EMG and muscle biopsy. The use of dystrophin immunohistochemistry in addition to CK, EMG and muscle biopsy improved the accuracy of carrier detection. This method is also helpful to distinguish manifesting DMD carriers from patients with other neuromuscular diseases like limb-girdle muscular dystrophy and spinal muscular atrophy. |
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Arquivos de neuro-psiquiatria (Online) |
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Carrier detection of duchenne and becker muscular dystrophy using muscle dystrophin immunohistochemistrymuscular dystrophy (Duchenne and Becker)carrier detectiondystrophinTo ascertain whether dystrophin immunohistochemistry could improve DMD/ BMD carrier detection, we analyzed 14 muscle biopsies from 13 DMD and one BMD probable and possible carriers. All women were also evaluated using conventional methods, including genetic analysis, clinical and neurological evaluation, serum CK levels, KMG, and muscle biopsy. In 6 cases, there was a mosaic of dystrophin-positive and dystrophin-deficient fibers that allowed to make the diagnosis of a carrier state. Comparing dystrophin immunohistochemistry to the traditional methods, it was noted that this method is less sensitive than serum CK measuremens, but is more sensitive than EMG and muscle biopsy. The use of dystrophin immunohistochemistry in addition to CK, EMG and muscle biopsy improved the accuracy of carrier detection. This method is also helpful to distinguish manifesting DMD carriers from patients with other neuromuscular diseases like limb-girdle muscular dystrophy and spinal muscular atrophy.Academia Brasileira de Neurologia - ABNEURO1992-12-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1992000400010Arquivos de Neuro-Psiquiatria v.50 n.4 1992reponame:Arquivos de neuro-psiquiatria (Online)instname:Academia Brasileira de Neurologiainstacron:ABNEURO10.1590/S0004-282X1992000400010info:eu-repo/semantics/openAccessOliveira,Acary S. BulleGabbai,Alberto A.Schmidt,BenyHitomi Kiyomoto,BeatrizLima,G. CamargoMinetti,CarloBonilla,Eduardoeng2011-02-22T00:00:00Zoai:scielo:S0004-282X1992000400010Revistahttp://www.scielo.br/anphttps://old.scielo.br/oai/scielo-oai.php||revista.arquivos@abneuro.org1678-42270004-282Xopendoar:2011-02-22T00:00Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologiafalse |
dc.title.none.fl_str_mv |
Carrier detection of duchenne and becker muscular dystrophy using muscle dystrophin immunohistochemistry |
title |
Carrier detection of duchenne and becker muscular dystrophy using muscle dystrophin immunohistochemistry |
spellingShingle |
Carrier detection of duchenne and becker muscular dystrophy using muscle dystrophin immunohistochemistry Oliveira,Acary S. Bulle muscular dystrophy (Duchenne and Becker) carrier detection dystrophin |
title_short |
Carrier detection of duchenne and becker muscular dystrophy using muscle dystrophin immunohistochemistry |
title_full |
Carrier detection of duchenne and becker muscular dystrophy using muscle dystrophin immunohistochemistry |
title_fullStr |
Carrier detection of duchenne and becker muscular dystrophy using muscle dystrophin immunohistochemistry |
title_full_unstemmed |
Carrier detection of duchenne and becker muscular dystrophy using muscle dystrophin immunohistochemistry |
title_sort |
Carrier detection of duchenne and becker muscular dystrophy using muscle dystrophin immunohistochemistry |
author |
Oliveira,Acary S. Bulle |
author_facet |
Oliveira,Acary S. Bulle Gabbai,Alberto A. Schmidt,Beny Hitomi Kiyomoto,Beatriz Lima,G. Camargo Minetti,Carlo Bonilla,Eduardo |
author_role |
author |
author2 |
Gabbai,Alberto A. Schmidt,Beny Hitomi Kiyomoto,Beatriz Lima,G. Camargo Minetti,Carlo Bonilla,Eduardo |
author2_role |
author author author author author author |
dc.contributor.author.fl_str_mv |
Oliveira,Acary S. Bulle Gabbai,Alberto A. Schmidt,Beny Hitomi Kiyomoto,Beatriz Lima,G. Camargo Minetti,Carlo Bonilla,Eduardo |
dc.subject.por.fl_str_mv |
muscular dystrophy (Duchenne and Becker) carrier detection dystrophin |
topic |
muscular dystrophy (Duchenne and Becker) carrier detection dystrophin |
description |
To ascertain whether dystrophin immunohistochemistry could improve DMD/ BMD carrier detection, we analyzed 14 muscle biopsies from 13 DMD and one BMD probable and possible carriers. All women were also evaluated using conventional methods, including genetic analysis, clinical and neurological evaluation, serum CK levels, KMG, and muscle biopsy. In 6 cases, there was a mosaic of dystrophin-positive and dystrophin-deficient fibers that allowed to make the diagnosis of a carrier state. Comparing dystrophin immunohistochemistry to the traditional methods, it was noted that this method is less sensitive than serum CK measuremens, but is more sensitive than EMG and muscle biopsy. The use of dystrophin immunohistochemistry in addition to CK, EMG and muscle biopsy improved the accuracy of carrier detection. This method is also helpful to distinguish manifesting DMD carriers from patients with other neuromuscular diseases like limb-girdle muscular dystrophy and spinal muscular atrophy. |
publishDate |
1992 |
dc.date.none.fl_str_mv |
1992-12-01 |
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=S0004-282X1992000400010 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1992000400010 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/S0004-282X1992000400010 |
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.50 n.4 1992 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_ |
1754212747906646016 |