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

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Limb girdle muscular dystrophy type 2T (LGMD 2T). This is a dystroglycanopathy. Fully referenced neurology checklist.

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

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Other GMPPB phenotypes

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Muscle biopsy: features

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Other investigations

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Treatment

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Synonym

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Acronym

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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.

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