Biblioteca Digital do Instituto Politécnico de Bragança   Instituto Politécnico de Bragança

Biblioteca Digital do IPB >
Escola Superior de Saúde >
Departamento de Tecnologias de Diagnóstico Terapêutica >
DTDT - Resumos em Proceedings Não Indexados ao ISI/Scopus >

Please use this identifier to cite or link to this item:

Título: Mutation spectrum and phenotypes of thirty Portuguese families with autosomal recessive limb-girdle muscular dystrophy
Autor: Santos, Rosário
Vieira, Emília
Rodrigues, Carina
Jorge, Paula
Pires, M. Melo
Guimarães, Ana Paula
Coelho, T.
Evangelista, T.
Santos, M.A.
Fineza, I.
Machado, C.
Ferreira, F.
Vasconcelos, R.
Fernandes, H. Cabral
Santos, H.
Urtizberea, J.A.
Palavras-chave: Autosomal recessive muscular dystrophy
New mutations and phenotypes
Issue Date: 1999
Editora: World Muscle Society
Citação: Santos, Rosário; Vieira, Emília; Rodrigues, Carina; Jorge, Paula; Pires, M. Melo; Guimarães, A.; Coelho, T.; Evangelista, T.; Santos, M. A.; Fineza, I.; Machado, C.; Ferreira, F.; Vasconçelos, R.; Fernandes, Cabral H.; Santos, H.; Urtizberea, J. A. (1999) - Mutation spectrum and phenotypes of thirty Portuguese families with autosomal recessive limb-girdle muscular dystrophy. In 4th International Congress of World Muscular. Neuromuscular Disorders. ISSN 0960-8966. 9:6-7, p. 504
Resumo: A group of 65 patients, comprising 59 apparently unrelated families, were screened for mutations in the sarcoglycan (SG) genes, as well as in the CANP3 and DYSF genes. A total of 30 families(36 patients) were characterized at the molecular level and found to fall into the following groups: 4, LGMD2A; 15, LGMDC; 8, LGMD2D; 3, LGMD2E. Four new mutations were identi®ed: two in the a-SG and two in the b-SG genes. Only two mutations, namely D521-T and C283Y, accounted for all of the g-sarcoglycanopathies. The former was found on two genetic backgrounds for the D12S232 marker, even among ®ve unrelated patients from the Island of Madeira. C283Y was found only and in all patients of Gypsy ethnicity, always on the same D13S232 allelic background, supporting the founder hypothesis. The a-SG mutation R77C was also particularly prevalent, accounting for 11 of the 60 mutated chromosomes (18.3%). Marked phenotypic heterogeneity was observed between and within the families presenting this mutation in homozygosity. As a whole, the LGMD2D group presented the widest phenotypic spectrum, while those with b-sarcoglycanopathies, g-sarcoglycanpathies (with a few striking exceptions) and calpainopathies, were generally more homogeneous.
Arbitragem científica: yes
ISSN: 0960-8966
Versão do Editor:
Appears in Collections:DTDT - Resumos em Proceedings Não Indexados ao ISI/Scopus

Files in This Item:

File Description SizeFormat
Mutational spectrum and phenotypes.pdf200,44 kBAdobe PDFView/Open

Please give feedback about this item
FacebookTwitterDeliciousLinkedInDiggGoogle BookmarksMySpace
Formato BibTex MendeleyEndnote Logotipo do DeGóis 

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.


© Instituto Politécnico de Bragança - Biblioteca Digital - Feedback - Statistics
Promotores do RCAAP   Financiadores do RCAAP

Fundação para a Ciência e a Tecnologia Universidade do Minho   Governo Português Ministério da Educação e Ciência PO Sociedade do Conhecimento (POSC) Portal oficial da União Europeia