Skip to main content

Table 2 Hereditary inclusion body myopathy subtypes (further detailed by Needham et al.[29])

From: Sporadic inclusion body myositis: the genetic contributions to the pathogenesis

Hereditary IBM (hIBM) subtypes OMIM# Disease inheritance Genes Function of coding proteins
Inclusion body myopathy 2 - hIBM2 (distal myopathy with rimmed vacuoles -DMRV/Nonaka myopathy) 600737 (605820) Autosomal-recessive UDP-N-acetylgucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) gene A rate-limiting enzyme in the sialic acid biosynthetic pathway, involved in sialylation of muscle glycoproteins, and cellular homeostasis
A leukoencephalopathy and a vacuolar myopathy resembling IBM n/a Autosomal-recessive Laminin alpha 2 (LAMA2) gene[30] An extracellular protein of basement membrane, mediates the attachment, migration, and organization of cells into tissues during embryonic development
hIBM with congenital joint contractures, ophthalmoplegia and rimmed vacuoles – hIBM3 605637 Autosomal-dominant Myosin heavy chain IIa (MYH2; previously known as MHCIIa) gene A member of Class II or conventional myosin heavy chains, functions in skeletal muscle contraction
Inclusion body myopathy with early-onset Paget’s disease of the bone (PDB) and frontotemporal dementia (FTD) (IBMPFD) 167320 Autosomal-dominant Valosin-containing protein (VCP) gene A member of the ‘ATPases associated with a variety of activities (AAA-ATPase)’ superfamily, is involved in a variety of cellular activities, such as cell cycle control, membrane fusion and the ubiquitin-proteasome degradation pathway