Inclusion body myopathy with Paget disease and frontotemporal dementia (IBMPFD): clinical features including sphincter disturbance in a large pedigree

Abstract

Autosomal dominant inclusion body myopathy (IBM) associated with Paget disease of bone (PDB) and frontotemporal dementia (FTD), or IBMPFD, is a rare recently described multisystem disorder caused by missense mutations...