Hereditary inclusion body myopathy (Q88130)

Group of rare muscle disorders with autosomal recessive or dominant inheritance and presence of muscle fibres with rimmed vacuoles and collection of cytoplasmic or nuclear 15-21 nm diameter tubulo-filaments as revealed by muscle biopsy. The most common form of hereditary inclusion-body myopathy is due to mutations of the GNE gene that codes for a rate-limiting enzyme in the sialic acid biosynthetic pathway. This results in abnormal sialylation of glycoproteins that possibly leads to muscle fibre degeneration