Carrier detection of duchenne and becker muscular dystrophy using muscle dystrophin immunohistochemistry
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 evalua...
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| Format: | Article |
| Language: | English |
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Thieme Revinter Publicações
1992-12-01
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| Series: | Arquivos de Neuro-Psiquiatria |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1992000400010&lng=en&tlng=en |
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| author | Acary S. Bulle Oliveira Alberto A. Gabbai Beny Schmidt Beatriz Hitomi Kiyomoto G. Camargo Lima Carlo Minetti Eduardo Bonilla |
| author_facet | Acary S. Bulle Oliveira Alberto A. Gabbai Beny Schmidt Beatriz Hitomi Kiyomoto G. Camargo Lima Carlo Minetti Eduardo Bonilla |
| author_sort | Acary S. Bulle Oliveira |
| collection | DOAJ |
| 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. |
| format | Article |
| id | doaj-art-8ba5cfc81d894f97bff1cafd01d32ae7 |
| institution | OA Journals |
| issn | 1678-4227 |
| language | English |
| publishDate | 1992-12-01 |
| publisher | Thieme Revinter Publicações |
| record_format | Article |
| series | Arquivos de Neuro-Psiquiatria |
| spelling | doaj-art-8ba5cfc81d894f97bff1cafd01d32ae72025-08-20T01:58:22ZengThieme Revinter PublicaçõesArquivos de Neuro-Psiquiatria1678-42271992-12-0150447848510.1590/S0004-282X1992000400010S0004-282X1992000400010Carrier detection of duchenne and becker muscular dystrophy using muscle dystrophin immunohistochemistryAcary S. Bulle OliveiraAlberto A. GabbaiBeny SchmidtBeatriz Hitomi KiyomotoG. Camargo LimaCarlo MinettiEduardo BonillaTo 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.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1992000400010&lng=en&tlng=endistrofia muscular (Duchenne e Becker)detecção de portadorasdistrofina |
| spellingShingle | Acary S. Bulle Oliveira Alberto A. Gabbai Beny Schmidt Beatriz Hitomi Kiyomoto G. Camargo Lima Carlo Minetti Eduardo Bonilla Carrier detection of duchenne and becker muscular dystrophy using muscle dystrophin immunohistochemistry Arquivos de Neuro-Psiquiatria distrofia muscular (Duchenne e Becker) detecção de portadoras distrofina |
| title | 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_short | 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 |
| topic | distrofia muscular (Duchenne e Becker) detecção de portadoras distrofina |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1992000400010&lng=en&tlng=en |
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