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  • Title: A fourth case of POMT2-related limb girdle muscle dystrophy with mild reduction of α-dystroglycan glycosylation.
    Author: Saredi S, Gibertini S, Ardissone A, Fusco I, Zanotti S, Blasevich F, Morandi L, Moroni I, Mora M.
    Journal: Eur J Paediatr Neurol; 2014 May; 18(3):404-8. PubMed ID: 24183756.
    Abstract:
    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 α-dystroglycan (α-DG) glycosylation and α-DG laminin binding. CONCLUSIONS: Our case, the fourth LGMD POMT2-mutated reported to date, provides further evidence of correlation between level of α-DG glycosylation and phenotype severity.
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