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

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

Limb girdle muscular dystrophy type 2U (LGMD 2U). This is caused by mutations in the ISPD gene on chromosome 7p21. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the ISPD gene on chromosome 7p21
  • It is early onset

Clinical features

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Systemic features

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Other ISPD phenotypes

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Creatinine kinase (CK)

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Muscle biopsy

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Synonym

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Acronym

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References

  1. Nigro V, Savarese M. Genetic basis of limb-girdle muscular dystrophies: the 2014 update. Acta Myol 2014; 33:1-12. 
  2. Tasca G, Moro F, Aiello C, et al. Limb-girdle muscular dystrophy with α-dystroglycan deficiency and mutations in the ISPD gene. Neurology 2013; 80:963-965. 
  3. Cirak S, Foley AR, Herrmann R, et al. ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies. Brain 2013; 136:269-281.

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