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

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)

Access to Document

10.1016/j.ejpn.2013.10.005

Fingerprint Dive into the research topics of 'A fourth case of POMT2-related limb girdle muscle dystrophy with mild reduction of α-dystroglycan glycosylation'. Together they form a unique fingerprint.

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

@article{c70e722c77c44c84aa6f4490a97b72e4,

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

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",

year = "2014",

doi = "10.1016/j.ejpn.2013.10.005",

language = "English",

volume = "18",

pages = "404--408",

journal = "European Journal of Paediatric Neurology",

issn = "1090-3798",

publisher = "W.B. Saunders Ltd",

number = "3",

}

TY - JOUR

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

KW - POMT2

KW - α-Dystroglycan glycosylation

KW - α-Dystroglycanopathy

UR - http://www.scopus.com/inward/record.url?scp=84900308518&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84900308518&partnerID=8YFLogxK

U2 - 10.1016/j.ejpn.2013.10.005

DO - 10.1016/j.ejpn.2013.10.005

M3 - Article

C2 - 24183756

AN - SCOPUS:84900308518

VL - 18

SP - 404

EP - 408

JO - European Journal of Paediatric Neurology

JF - European Journal of Paediatric Neurology

SN - 1090-3798

IS - 3

ER -