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.
Citazione: | 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. |
Tipo: | Articolo in rivista - Articolo scientifico |
Carattere della pubblicazione: | Scientifica |
Presenza di un coautore afferente ad Istituzioni straniere: | No |
Titolo: | A fourth case of POMT2-related limb girdle muscle dystrophy with mild reduction of α-dystroglycan glycosylation |
Autori: | Saredi, S; Gibertini, S; Ardissone, A; Fusco, I; Zanotti, S; Blasevich, F; Morandi, L; Moroni, I; Mora, M |
Autori: | GIBERTINI, SARA (Secondo) |
Data di pubblicazione: | 2014 |
Lingua: | English |
Rivista: | EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY |
Digital Object Identifier (DOI): | http://dx.doi.org/10.1016/j.ejpn.2013.10.005 |
Appare nelle tipologie: | 01 - Articolo su rivista |
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