Disease table



Disease phenotype
OMIM
Gene symbol (chromosome)
protein
Inclusion body myopathy with early-onset paget disease and frontotemporal dement (5.25, 4.17, 12.52, 1.48, 14.61)
167320
VCP (9p13-p12)
Valosin-containing protein



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 (16.37)
616263
PTRH2 (17q23.1)
Peptidyl-tRNA Hydrolase 2



Isolated inclusion body myopathy (3.36, 12.58)
615424
HNRNPA1 (12q13.13)
heterogeneous nuclear ribonucleoprotein A1