Limb girdle muscular dystrophy type 2T (LGMD 2T)

Evidence-based neurology checklist on limb girdle muscular dystrophy type 2t (lgmd 2t): Genetics This is a dystroglycanopathy It is caused by mutations in the GMPPB gene on chromosome 3p The onset is in the first to third decades Clinical features Other GMPPB phenotypes Muscle biopsy: features…

Genetics

  • This is a dystroglycanopathy
  • It is caused by mutations in the GMPPB gene on chromosome 3p
  • The onset is in the first to third decades

Clinical features

Other GMPPB phenotypes

Muscle biopsy: features

Other investigations

Treatment

Synonym

Acronym

References

  1. Oestergaard ST, Stojkovic T, Dahlqvist JR, et al. Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T). Neurol Genet 2016; 2:e112.
  2. 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. 
  3. Belaya K, Rodríguez Cruz PM, Liu WW, et al. Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. Brain 2015; 138:2493-2504.
  4. Cabrera-Serrano M, Ghaoui R, Ravenscroft G, et al. Expanding the phenotype of GMPPB mutations. Brain 2015; 138:836-844.

Related checklists

Loading...