Hereditary inclusion body myopathy (Q88130): Difference between revisions

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