The genetic features of the three types of hereditary inclusion body myopathy (IBM) and the IBM with early-onset Paget disease and frontotemporal dementia (IBMPFD). There are 4 types of familial IBM. Types 1, 3 and IBMPFD are autosomal dominant whereas IBM2 is autosomal recessive disease (for details see Discussion).
IBM:
Inclusion-body myopathy,
DES:
Desmin,
GNE:
UDP-N- acetylglucosamine-2-epimerase/N-acetylmannosomine kinase,
IBMPFD:
IBM with early-onset Paget disease and frontotemporal dementia,
MYHC2A:
myosin heavy chain IIa,
VCP:
valosin-containing protein.