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. © 2013 Published by Elsevier Ltd on behalf of European Paediatric Neurology Society.

Saredi, S., Gibertini, S., Ardissone, A., Fusco, I., Zanotti, S., Blasevich, F., et al. (2014). A fourth case of POMT2-related limb girdle muscle dystrophy with mild reduction of α-dystroglycan glycosylation. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 18(3), 404-408 [10.1016/j.ejpn.2013.10.005].

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

GIBERTINI, SARA
Secondo
;
ZANOTTI, SIMONA;
2014

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. © 2013 Published by Elsevier Ltd on behalf of European Paediatric Neurology Society.
Articolo in rivista - Articolo scientifico
Congenital muscular dystrophy; Limb girdle muscular dystrophy; POMT2; α-Dystroglycan glycosylation; α-Dystroglycanopathy;
English
2014
18
3
404
408
reserved
Saredi, S., Gibertini, S., Ardissone, A., Fusco, I., Zanotti, S., Blasevich, F., et al. (2014). A fourth case of POMT2-related limb girdle muscle dystrophy with mild reduction of α-dystroglycan glycosylation. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 18(3), 404-408 [10.1016/j.ejpn.2013.10.005].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/88425
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