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

S. Saredi; S. Gibertini; A. Ardissone; I. Fusco; S. Zanotti; F. Blasevich; L. Morandi; I. Moroni; M. Mora

doi:10.1016/j.ejpn.2013.10.005

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

S. Saredi, S. Gibertini, A. Ardissone, I. Fusco, S. Zanotti, F. Blasevich, L. Morandi, I. Moroni, M. Mora

Fondazione IRCCS Istituto Neurologico "C. Besta"

Research output: Contribution to journal › Article

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.

Original language	English
Pages (from-to)	404-408
Number of pages	5
Journal	European Journal of Paediatric Neurology
Volume	18
Issue number	3
DOIs	https://doi.org/10.1016/j.ejpn.2013.10.005
Publication status	Published - 2014

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Keywords

Congenital muscular dystrophy
Limb girdle muscular dystrophy
POMT2
α-Dystroglycan glycosylation
α-Dystroglycanopathy

ASJC Scopus subject areas

Clinical Neurology
Pediatrics, Perinatology, and Child Health
Medicine(all)

Cite this

Saredi, S., Gibertini, S., Ardissone, A., Fusco, I., Zanotti, S., Blasevich, F., Morandi, L., Moroni, I., & Mora, M. (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. https://doi.org/10.1016/j.ejpn.2013.10.005

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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.",

keywords = "Congenital muscular dystrophy, Limb girdle muscular dystrophy, POMT2, α-Dystroglycan glycosylation, α-Dystroglycanopathy",

author = "S. Saredi and S. Gibertini and A. Ardissone and I. Fusco and S. Zanotti and F. Blasevich and L. Morandi and I. Moroni and M. Mora",

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T1 - A fourth case of POMT2-related limb girdle muscle dystrophy with mild reduction of α-dystroglycan glycosylation

AU - Saredi, S.

AU - Gibertini, S.

AU - Ardissone, A.

AU - Fusco, I.

AU - Zanotti, S.

AU - Blasevich, F.

AU - Morandi, L.

AU - Moroni, I.

AU - Mora, M.

PY - 2014

Y1 - 2014

N2 - 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.

AB - 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.

KW - Congenital muscular dystrophy

KW - Limb girdle muscular dystrophy

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KW - α-Dystroglycan glycosylation

KW - α-Dystroglycanopathy

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10.1016/j.ejpn.2013.10.005