Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies
Autor(a) principal: | |
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Data de Publicação: | 2001 |
Outros Autores: | , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UCB |
Texto Completo: | http://twingo.ucb.br:8080/jspui/handle/10869/473 https://repositorio.ucb.br:9443/jspui/handle/123456789/7610 |
Resumo: | We describe a strategy for molecular diagnosis in the autosomal recessive limb-girdle muscular dystrophies, a highly heterogeneous group of inherited muscle-wasting diseases. Genetic mutation analysis is directed by immunoanalysis of muscle biopsies using antibodies against a panel of muscular dystrophy-associated proteins. Performing the molecular analysis in this way greatly increases the chance that mutations will be found in the ®rst gene examined. The use of this strategy can signi®cantly decrease the time involved in determining the genetic fault in a patient with a clinical diagnosis of recessive limb-girdle muscular dystrophy, as well as having a feedback effect, which is useful in helping clinicians to identify subtle clinical differences between the subtypes of the disease. The use of this approach has so far helped us to identify mutations in ten sarcoglycanopathy (limb-girdle muscular dystrophy 2C±2F) patients, and seven calpainopathy (limb-girdle muscular dystrophy 2A) patients. |
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Pogue, RobertAnderson, Louise V.B.Pyle, AngelaSewry, CarolinePollitt, ChristineJohnson, Margaret A.Davison, KeithMoss, Jennifer A.Mercuri, EugenioMuntoni, FrancescoBushby, Katherine M.D.2016-10-10T03:52:04Z2016-10-10T03:52:04Z2001POGUE, Robert et al. Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies. Neuromuscular Disorders, v. 11, p. 80-87, 2001.9608966http://twingo.ucb.br:8080/jspui/handle/10869/473https://repositorio.ucb.br:9443/jspui/handle/123456789/7610We describe a strategy for molecular diagnosis in the autosomal recessive limb-girdle muscular dystrophies, a highly heterogeneous group of inherited muscle-wasting diseases. Genetic mutation analysis is directed by immunoanalysis of muscle biopsies using antibodies against a panel of muscular dystrophy-associated proteins. Performing the molecular analysis in this way greatly increases the chance that mutations will be found in the ®rst gene examined. The use of this strategy can signi®cantly decrease the time involved in determining the genetic fault in a patient with a clinical diagnosis of recessive limb-girdle muscular dystrophy, as well as having a feedback effect, which is useful in helping clinicians to identify subtle clinical differences between the subtypes of the disease. The use of this approach has so far helped us to identify mutations in ten sarcoglycanopathy (limb-girdle muscular dystrophy 2C±2F) patients, and seven calpainopathy (limb-girdle muscular dystrophy 2A) patients.Made available in DSpace on 2016-10-10T03:52:04Z (GMT). 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dc.title.pt_BR.fl_str_mv |
Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies |
title |
Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies |
spellingShingle |
Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies Pogue, Robert Limb-girdle muscular dystrophies Mutation analysis Proteins |
title_short |
Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies |
title_full |
Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies |
title_fullStr |
Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies |
title_full_unstemmed |
Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies |
title_sort |
Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies |
author |
Pogue, Robert |
author_facet |
Pogue, Robert Anderson, Louise V.B. Pyle, Angela Sewry, Caroline Pollitt, Christine Johnson, Margaret A. Davison, Keith Moss, Jennifer A. Mercuri, Eugenio Muntoni, Francesco Bushby, Katherine M.D. |
author_role |
author |
author2 |
Anderson, Louise V.B. Pyle, Angela Sewry, Caroline Pollitt, Christine Johnson, Margaret A. Davison, Keith Moss, Jennifer A. Mercuri, Eugenio Muntoni, Francesco Bushby, Katherine M.D. |
author2_role |
author author author author author author author author author author |
dc.contributor.author.fl_str_mv |
Pogue, Robert Anderson, Louise V.B. Pyle, Angela Sewry, Caroline Pollitt, Christine Johnson, Margaret A. Davison, Keith Moss, Jennifer A. Mercuri, Eugenio Muntoni, Francesco Bushby, Katherine M.D. |
dc.subject.por.fl_str_mv |
Limb-girdle muscular dystrophies Mutation analysis Proteins |
topic |
Limb-girdle muscular dystrophies Mutation analysis Proteins |
dc.description.abstract.por.fl_txt_mv |
We describe a strategy for molecular diagnosis in the autosomal recessive limb-girdle muscular dystrophies, a highly heterogeneous group of inherited muscle-wasting diseases. Genetic mutation analysis is directed by immunoanalysis of muscle biopsies using antibodies against a panel of muscular dystrophy-associated proteins. Performing the molecular analysis in this way greatly increases the chance that mutations will be found in the ®rst gene examined. The use of this strategy can signi®cantly decrease the time involved in determining the genetic fault in a patient with a clinical diagnosis of recessive limb-girdle muscular dystrophy, as well as having a feedback effect, which is useful in helping clinicians to identify subtle clinical differences between the subtypes of the disease. The use of this approach has so far helped us to identify mutations in ten sarcoglycanopathy (limb-girdle muscular dystrophy 2C±2F) patients, and seven calpainopathy (limb-girdle muscular dystrophy 2A) patients. |
dc.description.version.pt_BR.fl_txt_mv |
Sim |
dc.description.status.pt_BR.fl_txt_mv |
Publicado |
description |
We describe a strategy for molecular diagnosis in the autosomal recessive limb-girdle muscular dystrophies, a highly heterogeneous group of inherited muscle-wasting diseases. Genetic mutation analysis is directed by immunoanalysis of muscle biopsies using antibodies against a panel of muscular dystrophy-associated proteins. Performing the molecular analysis in this way greatly increases the chance that mutations will be found in the ®rst gene examined. The use of this strategy can signi®cantly decrease the time involved in determining the genetic fault in a patient with a clinical diagnosis of recessive limb-girdle muscular dystrophy, as well as having a feedback effect, which is useful in helping clinicians to identify subtle clinical differences between the subtypes of the disease. The use of this approach has so far helped us to identify mutations in ten sarcoglycanopathy (limb-girdle muscular dystrophy 2C±2F) patients, and seven calpainopathy (limb-girdle muscular dystrophy 2A) patients. |
publishDate |
2001 |
dc.date.issued.fl_str_mv |
2001 |
dc.date.accessioned.fl_str_mv |
2016-10-10T03:52:04Z |
dc.date.available.fl_str_mv |
2016-10-10T03:52:04Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
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info:eu-repo/semantics/article |
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publishedVersion |
format |
article |
dc.identifier.citation.fl_str_mv |
POGUE, Robert et al. Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies. Neuromuscular Disorders, v. 11, p. 80-87, 2001. |
dc.identifier.uri.fl_str_mv |
http://twingo.ucb.br:8080/jspui/handle/10869/473 https://repositorio.ucb.br:9443/jspui/handle/123456789/7610 |
dc.identifier.issn.none.fl_str_mv |
9608966 |
identifier_str_mv |
POGUE, Robert et al. Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies. Neuromuscular Disorders, v. 11, p. 80-87, 2001. 9608966 |
url |
http://twingo.ucb.br:8080/jspui/handle/10869/473 https://repositorio.ucb.br:9443/jspui/handle/123456789/7610 |
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eng |
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eng |
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openAccess |
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