Limb girdle muscular dystrophy type 2Z (LGMD 2Z)
Evidence-based neurology checklist on limb girdle muscular dystrophy type 2z (lgmd 2z): Genetics This is caused by mutations in the POGLUT1 gene on chromosome 3q13 The onset is in young adulthood Clinical features Other POGLUT1 disorders Creatinine kinase (CK) Acronym
Genetics
- This is caused by mutations in the POGLUT1 gene on chromosome 3q13
- The onset is in young adulthood
Clinical features
Other POGLUT1 disorders
Creatinine kinase (CK)
Acronym
References
- 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.
- 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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