A fourth case of POMT2-related limb girdle muscle dystrophy with mild reduction of alpha-dystroglycan glycosylation

作者：Saredi S; Gibertini S; Ardissone A; Fusco I; Zanotti S; Blasevich F; Morandi L; Moroni I; Mora M^*

来源：European Journal of Paediatric Neurology, 2014, 18(3): 404-408.

DOI：10.1016/j.ejpn.2013.10.005

• POMT2
• alpha-Dystroglycanopathy
• alpha-Dystroglycan glycosylation
• Limb girdle muscular dystrophy
• Congenital muscular dystrophy

Background: POMT2 mutations have been identified in Walker-Warburg syndrome or muscle-eye-brain-like, but rarely in limb girdle muscular dystrophy (LGMD).
Results: Two POMT2 mutations, one null and one missense, were found in a patient with LGMD and mild mental impairment, no brain or ocular involvement, minor histopathological features, and slight reduction of alpha-dystroglycan (alpha-DG) glycosylation and alpha-DG laminin binding.
Conclusions: Our case, the fourth LGMD POMT2-mutated reported to date, provides further evidence of correlation between level of alpha-DG glycosylation and phenotype severity.

• 出版日期2014-5