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

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

Limb girdle muscular dystrophy type 2Z (LGMD 2Z). This is caused by mutations in the POGLUT1 gene on chromosome 3q13. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the POGLUT1 gene on chromosome 3q13
  • The onset is in young adulthood

Clinical features

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Other POGLUT1 disorders

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Creatinine kinase (CK)

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Acronym

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References

  1. Servián-Morilla E, Takeuchi H, Lee TV, et al. A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss. EMBO Mol Med 2016; 8:1289-1309. 
  2. Basmanav FB, Oprisoreanu AM, Pasternack SM, et al. Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease. Am J Hum Genet 2014; 94:135-143.

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