Repositório Científico do Instituto Nacional de Saúde >
Departamento de Genética Humana >
DGH - Artigos em revistas internacionais >

Please use this identifier to cite or link to this item: http://hdl.handle.net/10400.18/711

Título: Novel ancestral Dysferlin splicing mutation which migrated from the Iberian peninsula to South America
Autor: Vernengo, Luis
Oliveira, Jorge
Krahn, Martin
Vieira, Emília
Santos, Rosário
Carrasco, Luisa
Negrão, Luis
Panuncio, Ana
Leturcq, France
Labelle, Veronique
Bronze-da-Rocha, Elsa
Mesa, Rosário
Pizzarossa, Carlos
Lévy, Nicolas
Rodriguez, Maria-Mirta
Palavras-chave: Primary Dysferlinopathies
Miyoshi Myopathy
LGMD2B
HyperCKemia
Founder Mutation
Doenças Genéticas
Issue Date: May-2011
Editora: Elsevier
Citação: Neuromuscul Disord. 2011 May;21(5):328-37. Epub 2011 Mar 9
Resumo: Primary dysferlinopathies are a group of recessive heterogeneous muscular dystrophies. The most common clinical presentations are Miyoshi myopathy and LGMD2B. Additional presentations range from isolated hyperCKemia to severe functional disability. Symptomatology begins in the posterior muscle compartment of the calf and its clinical course progresses slowly in Miyoshi myopathy whereas LGMD2B involves predominantly the proximal muscles of the lower limbs. The age of onset ranges from 13 to 60 years in Caucasians. We present five patients that carry a novel mutation in the exon12/intron12 boundary: c.1180_1180 + 7delAGTGCGTG (r.1054_1284del). We provide evidence of a founder effect due to a common ancestral origin of this mutation, detected in heterozygosity in four patients and in homozygosity in one patient.
Arbitragem científica: yes
URI: http://hdl.handle.net/10400.18/711
ISSN: 0960-8966
Versão do Editor: http://www.sciencedirect.com/science/article/pii/S0960896611000289
Appears in Collections:DGH - Artigos em revistas internacionais

Files in This Item:

File Description SizeFormat
Dysferlin 2011.pdf1,3 MBAdobe PDFView/Open
Restrict Access. You can request a copy!
Statistics
FacebookTwitterDeliciousLinkedInDiggGoogle BookmarksMySpaceOrkut
Formato BibTex mendeley Endnote Logotipo do DeGóis 

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

 

  © 2010 www.insa.pt - Todos os direitos reservados | Feedback Ministério da Saúde
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