Hereditary inclusion-body myopathies.

@article{Broccolini2015HereditaryIM,
  title={Hereditary inclusion-body myopathies.},
  author={Aldobrando Broccolini and Massimiliano Mirabella},
  journal={Biochimica et biophysica acta},
  year={2015},
  volume={1852 4},
  pages={644-50}
}
The term hereditary inclusion-body myopathies (HIBMs) defines a group of rare muscle disorders with autosomal recessive or dominant inheritance and presence of muscle fibers with rimmed vacuoles and collection of cytoplasmic or nuclear 15-21 nm diameter tubulofilaments as revealed by muscle biopsy. The most common form of HIBM 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… CONTINUE READING
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