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

Evidence-based neurology checklist on limb girdle muscular dystrophy type 2h (lgmd 2h): Genetics This is caused by mutations in the TRIM32 gene The gene product is an E3 ubiquitin ligase It predominantly presents in Hutterites The onset is in the second to fourth decades It may present in infancy…

Genetics

  • This is caused by mutations in the TRIM32 gene
  • The gene product is an E3 ubiquitin ligase
  • It predominantly presents in Hutterites
  • The onset is in the second to fourth decades
  • It may present in infancy with floppy infant and delayed milestones

Clinical features

Investigations

Acronym

References

  1. Borg K, Stucka R, Locke M, et al. Intragenic deletion of TRIM32 in compound heterozygotes with sarcotubular myopathy/LGMD2H. Hum Mutat 2009; 30:E831-E844. 
  2. Nigro V, Savarese M. Genetic basis of limb-girdle muscular dystrophies: the 2014 update. Acta Myol 2014; 33:1-12.
  3. Mitsuhashi S, Kang PB. Update on the genetics of limb girdle muscular dystrophy. Semin Pediatr Neurol 2012; 19:211-218.

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