Limb-girdle muscular dystrophy: an immunohistochemical diagnostic approach
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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2005
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oai:scielo:S0004-282X20050002000092005-07-05Limb-girdle muscular dystrophy: an immunohistochemical diagnostic approachComerlato,Enio AlbertoScola,Rosana HermíniaWerneck,Lineu César limb-girdle muscular dystrophy immunoidentification sarcoglycans dysferlin calpain-3 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.info:eu-repo/semantics/openAccessAcademia Brasileira de Neurologia - ABNEUROArquivos de Neuro-Psiquiatria v.63 n.2a 20052005-06-01info:eu-repo/semantics/articletext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2005000200009en10.1590/S0004-282X2005000200009 |
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Comerlato,Enio Alberto Scola,Rosana Hermínia Werneck,Lineu César |
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Comerlato,Enio Alberto Scola,Rosana Hermínia Werneck,Lineu César Limb-girdle muscular dystrophy: an immunohistochemical diagnostic approach |
author_facet |
Comerlato,Enio Alberto Scola,Rosana Hermínia Werneck,Lineu César |
author_sort |
Comerlato,Enio Alberto |
title |
Limb-girdle muscular dystrophy: an immunohistochemical diagnostic approach |
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 |
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. |
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Academia Brasileira de Neurologia - ABNEURO |
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2005 |
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http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2005000200009 |
work_keys_str_mv |
AT comerlatoenioalberto limbgirdlemusculardystrophyanimmunohistochemicaldiagnosticapproach AT scolarosanaherminia limbgirdlemusculardystrophyanimmunohistochemicaldiagnosticapproach AT wernecklineucesar limbgirdlemusculardystrophyanimmunohistochemicaldiagnosticapproach |
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1756374297805324288 |