A Brazilian family with hereditary inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia

A Brazilian family with hereditary inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia

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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 frontote...

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Bibliographic Details
Main Authors: R.D. Fanganiello, V.E. Kimonis, C.C. Côrte, R. Nitrini, M.R. Passos-Bueno
Format: Article
Language:English
Published: Associação Brasileira de Divulgação Científica 2011-04-01
Series:Brazilian Journal of Medical and Biological Research
Subjects:
Frontotemporal dementia
VCP gene mutations
Myopathy
Paget disease of bone
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2011000400016

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2011000400016

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