Polyglucosan body myopathy (PGBM)

Evidence-based neurology checklist on polyglucosan body myopathy (pgbm): Genetics PGMB type 1 (PGMB1) PGMB type 2 (PGMB2) Pathology Age-onset phenotypes Clinical features Investigations Treatment

Genetics

  • PGMB type 1 (PGMB1)
  • PGMB type 2 (PGMB2)

Pathology

Age-onset phenotypes

Clinical features

Investigations

Treatment

References

  1. Nilsson J, Schoser B, Laforet P, et al. Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1. Ann Neurol 2013; 74:914-919.
  2. Fanin M, Torella A, Savarese M, Nigro V, Angelini C. GYG1 gene mutations in a family with polyglucosan body myopathy. Neurol Genet 2015 Sep;1:e21. 
  3. Malfatti E, Nilsson J, Hedberg-Oldfors C, et al. A new muscle glycogen storage disease associated with glycogenin-1 deficiency. Ann Neurol 2014; 76:891-898. 
  4. Akman HO, Aykit Y, Amuk OC, et al. Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1. Neuromuscul Disord 2016; 26:16-20. 
  5. Ben Yaou R, Hubert A, Nelson I, et al. Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency. Neurol Genet 2017; 3:e208.
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