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

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

Limb girdle muscular dystrophy type 2H (LGMD 2H). This is caused by mutations in the TRIM32 gene. Fully referenced neurology checklist.

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

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Investigations

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Acronym

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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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