Disease table



Disease phenotype
OMIM
Gene symbol (chromosome)
protein
Inclusion body myopathy with early-onset paget disease and frontotemporal dement (5.26, 4.17, 12.51, 1.48, 14.61)
167320
VCP (9p13-p12)
Valosin-containing protein



Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia (5.27)
615422
HNRNPA2B1 (7q15.2)
Hetergeneous nuclear ribonucleoprotein A2/B1



Inclusion body myopathy, autosomal recessive (4.3)
600737
GNE (9p13.3)
UDP-N-acetylglucosamine-2- epimerase/N-acetylmannosamine kinase



Infantile neuroaxonal dystrophy and neutral lipid storage disease with myopathy (9.29)
251950
PNPLA8 (7q31.1)
Patatin-like phospholipase domain containing 8 (M)



Infantile-onset multisystem disease with progressive muscle weakness (16.45)
616263
PTRH2 (17q23.1)
Peptidyl-tRNA Hydrolase 2



Isolated inclusion body myopathy (3.37, 12.57)
615424
HNRNPA1 (12q13.13)
heterogeneous nuclear ribonucleoprotein A1