A Brazilian family with inclusion body myopathy associated with Paget’s disease of bone and frontotemporal dementia linked to the VCP pGly97Glu mutation

The objective of this study is to report a Brazilian patient and his family with inclusion body myopathy associated with Paget’s disease of bone and frontotemporal dementia (IBMPFD). A systematic review of the literature on the valosin-containing protein ( VCP ) mutation was also performed. The prob...

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Veröffentlicht in:	Clinical rheumatology 2018-04, Vol.37 (4), p.1129-1136
Hauptverfasser:	Shinjo, Samuel Katsuyuki, Oba-Shinjo, Sueli Mieko, Lerario, Antonio Marcondes, Marie, Suely Kazue Nagahashi
Format:	Artikel
Sprache:	eng
Schlagworte:	Brazil Case Based Review Cognitive ability Dementia Dementia disorders Differential diagnosis Female Frontotemporal dementia Frontotemporal Dementia - genetics Genotype Humans Inflammation Inflammatory diseases Literature reviews Male Medicine Medicine & Public Health Middle Aged Missense mutation Muscular Dystrophies, Limb-Girdle - genetics Musculoskeletal diseases Mutation Myopathy Myositis, Inclusion Body - genetics Osteitis Deformans - genetics Pedigree Phenotype Phenotypes Polymyositis Rheumatology Valosin Containing Protein - genetics Valosin-containing protein
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