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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
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