Limb-girdle muscular dystrophy: an immunohistochemical diagnostic approach

Detalhes bibliográficos
Autor(a) principal: Comerlato,Enio Alberto
Data de Publicação: 2005
Outros Autores: Scola,Rosana Hermínia, Werneck,Lineu César
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=S0004-282X2005000200009
Resumo: The limb-girdle muscle dystrophy (LGMD) represents a heterogeneous group of muscular diseases with dominant and recessive inheritance, individualized by gene mutation. A group of 56 patients, 32 males and 24 females, with suggestive LGMD diagnosis were submitted to clinical evaluation, serum muscle enzymes, electromyography, muscle biopsy, and the immunoidentification (ID) of sarcoglycans (SG) alpha, beta, gamma and delta, dysferlin and western blot for calpain-3. All the patients had normal ID for dystrophin (rod domain, carboxyl and amine terminal). The alpha-SG was normal in 42 patients, beta-SG in 28, beta-SG in 45, delta-SG in 32, dysferlin in 37 and calpain-3 in 9. There was a reduction in the alpha-SG in 7 patients, beta-SG in 4, gamma-SG in 2, and delta-SG in 8. There was deficiency of alpha-SG in 7 patients, beta-SG in 6, gamma-SG in 9, delta-SG in 5, dysferlin in 8, and calpain-3 in 5. The patients were grouped according the ID as sarcoglycans deficiency 18 cases, dysferlin deficiency 8 cases and calpain-3 deficiency 5 cases. Only the sarcoglycans deficiency group showed calf hypertrophy. The dysferlin deficiency group was more frequent in females and the onset was later than sarcoglycan and calpain-3 deficiency groups. The calpain-3 deficiency group occurred only in males and showed an earlier onset and weaker muscular strength.
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spelling Limb-girdle muscular dystrophy: an immunohistochemical diagnostic approachlimb-girdle muscular dystrophyimmunoidentificationsarcoglycansdysferlincalpain-3The limb-girdle muscle dystrophy (LGMD) represents a heterogeneous group of muscular diseases with dominant and recessive inheritance, individualized by gene mutation. A group of 56 patients, 32 males and 24 females, with suggestive LGMD diagnosis were submitted to clinical evaluation, serum muscle enzymes, electromyography, muscle biopsy, and the immunoidentification (ID) of sarcoglycans (SG) alpha, beta, gamma and delta, dysferlin and western blot for calpain-3. All the patients had normal ID for dystrophin (rod domain, carboxyl and amine terminal). The alpha-SG was normal in 42 patients, beta-SG in 28, beta-SG in 45, delta-SG in 32, dysferlin in 37 and calpain-3 in 9. There was a reduction in the alpha-SG in 7 patients, beta-SG in 4, gamma-SG in 2, and delta-SG in 8. There was deficiency of alpha-SG in 7 patients, beta-SG in 6, gamma-SG in 9, delta-SG in 5, dysferlin in 8, and calpain-3 in 5. The patients were grouped according the ID as sarcoglycans deficiency 18 cases, dysferlin deficiency 8 cases and calpain-3 deficiency 5 cases. Only the sarcoglycans deficiency group showed calf hypertrophy. The dysferlin deficiency group was more frequent in females and the onset was later than sarcoglycan and calpain-3 deficiency groups. The calpain-3 deficiency group occurred only in males and showed an earlier onset and weaker muscular strength.Academia Brasileira de Neurologia - ABNEURO2005-06-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2005000200009Arquivos de Neuro-Psiquiatria v.63 n.2a 2005reponame:Arquivos de neuro-psiquiatria (Online)instname:Academia Brasileira de Neurologiainstacron:ABNEURO10.1590/S0004-282X2005000200009info:eu-repo/semantics/openAccessComerlato,Enio AlbertoScola,Rosana HermíniaWerneck,Lineu Césareng2005-07-05T00:00:00Zoai:scielo:S0004-282X2005000200009Revistahttp://www.scielo.br/anphttps://old.scielo.br/oai/scielo-oai.php||revista.arquivos@abneuro.org1678-42270004-282Xopendoar:2005-07-05T00:00Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologiafalse
dc.title.none.fl_str_mv Limb-girdle muscular dystrophy: an immunohistochemical diagnostic approach
title Limb-girdle muscular dystrophy: an immunohistochemical diagnostic approach
spellingShingle Limb-girdle muscular dystrophy: an immunohistochemical diagnostic approach
Comerlato,Enio Alberto
limb-girdle muscular dystrophy
immunoidentification
sarcoglycans
dysferlin
calpain-3
title_short Limb-girdle muscular dystrophy: an immunohistochemical diagnostic approach
title_full Limb-girdle muscular dystrophy: an immunohistochemical diagnostic approach
title_fullStr Limb-girdle muscular dystrophy: an immunohistochemical diagnostic approach
title_full_unstemmed Limb-girdle muscular dystrophy: an immunohistochemical diagnostic approach
title_sort Limb-girdle muscular dystrophy: an immunohistochemical diagnostic approach
author Comerlato,Enio Alberto
author_facet Comerlato,Enio Alberto
Scola,Rosana Hermínia
Werneck,Lineu César
author_role author
author2 Scola,Rosana Hermínia
Werneck,Lineu César
author2_role author
author
dc.contributor.author.fl_str_mv Comerlato,Enio Alberto
Scola,Rosana Hermínia
Werneck,Lineu César
dc.subject.por.fl_str_mv limb-girdle muscular dystrophy
immunoidentification
sarcoglycans
dysferlin
calpain-3
topic limb-girdle muscular dystrophy
immunoidentification
sarcoglycans
dysferlin
calpain-3
description The limb-girdle muscle dystrophy (LGMD) represents a heterogeneous group of muscular diseases with dominant and recessive inheritance, individualized by gene mutation. A group of 56 patients, 32 males and 24 females, with suggestive LGMD diagnosis were submitted to clinical evaluation, serum muscle enzymes, electromyography, muscle biopsy, and the immunoidentification (ID) of sarcoglycans (SG) alpha, beta, gamma and delta, dysferlin and western blot for calpain-3. All the patients had normal ID for dystrophin (rod domain, carboxyl and amine terminal). The alpha-SG was normal in 42 patients, beta-SG in 28, beta-SG in 45, delta-SG in 32, dysferlin in 37 and calpain-3 in 9. There was a reduction in the alpha-SG in 7 patients, beta-SG in 4, gamma-SG in 2, and delta-SG in 8. There was deficiency of alpha-SG in 7 patients, beta-SG in 6, gamma-SG in 9, delta-SG in 5, dysferlin in 8, and calpain-3 in 5. The patients were grouped according the ID as sarcoglycans deficiency 18 cases, dysferlin deficiency 8 cases and calpain-3 deficiency 5 cases. Only the sarcoglycans deficiency group showed calf hypertrophy. The dysferlin deficiency group was more frequent in females and the onset was later than sarcoglycan and calpain-3 deficiency groups. The calpain-3 deficiency group occurred only in males and showed an earlier onset and weaker muscular strength.
publishDate 2005
dc.date.none.fl_str_mv 2005-06-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
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dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2005000200009
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2005000200009
dc.language.iso.fl_str_mv eng
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dc.relation.none.fl_str_mv 10.1590/S0004-282X2005000200009
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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.63 n.2a 2005
reponame:Arquivos de neuro-psiquiatria (Online)
instname:Academia Brasileira de Neurologia
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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
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