Abstract
Hereditary inclusion body myopathies (HIBMs) are rare muscle disorders with autosomal-recessive or dominant inheritance and presence of muscle fibers with rimmed vacuoles and cytoplasmic or nuclear inclusions. The most common form of HIBM is due to the mutations of the GNE gene that is involved in sialic acid biosynthesis. The pathogenic mechanism of GNE myopathy is not known, but abnormal sialylation and processing of proteins may have a role. Mutations of the valosin-containing protein are instead responsible for HIBM with Paget’s disease of the bone and frontotemporal dementia, also representing a disorder of abnormal cellular trafficking of proteins and maturation of the autophagosome. HIBM with congenital joint contractures and external ophthalmoplegia is due to mutations of the myosin heavy chain IIa gene that leads to impairment filaments assembly or functional defects in ATPase activity. This chapter illustrates the clinical and pathologic features, possible pathogenic mechanisms, and therapeutic perspectives of HIBMs.
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