Sabiia Seb
PortuguêsEspañolEnglish
Embrapa
Home Itens selecionados Provedores de dados OAI Créditos Sobre Ajuda
        Busca avançada

Botão Atualizar

Botão Atualizar

Ordenar por: 

RelevânciaAutorTítuloAnoImprime registros no formato resumido
Registros recuperados: 1
Primeira ... 1 ... Última
Imagem não selecionada

Imprime registro no formato completo
A Brazilian family with hereditary inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia BJMBR
Fanganiello,R.D.; Kimonis,V.E.; Côrte,C.C.; Nitrini,R.; Passos-Bueno,M.R..
Inclusion body myopathy associated with Paget disease and frontotemporal dementia (IBMPFD) is a progressive and usually misdiagnosed autosomal dominant disorder. It is clinically characterized by a triad of features: proximal and distal myopathy, early onset Paget disease of bone (PDB), and frontotemporal dementia (FTD). It is caused by missense mutations in the valosin-containing protein (VCP) gene. We describe here the clinical and molecular findings of the first Brazilian family identified with IBMPFD. Progressive myopathy affecting the limb girdles was detected by clinical examination followed by muscle biopsy and creatine kinase measurement. PDB was suggested after anatomopathological bone examination and FTD was diagnosed by clinical,...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Frontotemporal dementia; VCP gene mutations; Myopathy; Paget disease of bone.
Ano: 2011 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2011000400016
Registros recuperados: 1
Primeira ... 1 ... Última
 

Empresa Brasileira de Pesquisa Agropecuária - Embrapa
Todos os direitos reservados, conforme Lei n° 9.610
Política de Privacidade
Área restrita
Embrapa
Parque Estação Biológica - PqEB s/n°
Brasília, DF - Brasil - CEP 70770-901
Fone: (61) 3448-4433 - Fax: (61) 3448-4890 / 3448-4891 SAC: https://www.embrapa.br/fale-conosco

Valid HTML 4.01 Transitional