Dystroglycanopathies

Evidence-based neurology checklist on dystroglycanopathies: Genetic mutations O-mannosylation pathway Dolichol-phosphate mannose (Dol-P-Man) pathway Xylosyl and glucoronyltransferase pathway Glycosyltransferase pathway Dystroglycan Clinical syndromes Clinical features

Genetic mutations

  • O-mannosylation pathway
  • Dolichol-phosphate mannose (Dol-P-Man) pathway
  • Xylosyl and glucoronyltransferase pathway
  • Glycosyltransferase pathway
  • Dystroglycan

Clinical syndromes

Clinical features

References

  1. Muntoni F, Torelli S, Brockington M. Muscular dystrophies due to glycosylation defects. Neurotherapeutics 2008; 5:627-632. 
  2. Martin PT. The dystroglycanopathies: the new disorders of O-linked glycosylation. Semin Pediatr Neurol 2005; 12:152-158.
  3. Kanagawa M. Dystroglycanopathy: from elucidation of molecular and pathological mechanisms to development of treatment methods. Int J Mol Sci 2021; 22:13162.
  4. Carss KJ, Stevens E, Foley AR, et al; UK10K Consortium., Lin YY, Muntoni F. Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. Am J Hum Genet 2013; 93:29-41. 
  5. Muntoni F, Torelli S, Brockington M. Muscular dystrophies due to glycosylation defects. Neurotherapeutics 2008; 5:627-632.

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