Literature DB >> 16717220

Expanding the clinical spectrum of POMT1 phenotype.

A D'Amico1, A Tessa, C Bruno, S Petrini, R Biancheri, M Pane, M Pedemonte, E Ricci, A Falace, A Rossi, E Mercuri, F M Santorelli, E Bertini.   

Abstract

Mutations in POMT1 have been identified in Walker-Warburg syndrome and in patients with limb-girdle muscular dystrophy and mental retardation (LGMD2K). The authors report new POMT1 mutations in three unrelated children with severe motor impairment, leg hypertrophy, and mental retardation but without brain and ocular malformations. These patients are similar to LGMD2K but have earlier onset and more severe motor disability. The current findings expand the spectrum of POMT1-associated phenotypes.

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Year:  2006        PMID： 16717220     DOI： 10.1212/01.wnl.0000216145.66476.36

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  10 in total

1.  A new evidence for the maintenance of the sarcoglycan complex in muscle sarcolemma in spite of the primary absence of delta-SG protein.

Authors:  Telma L F Gouveia; Patrícia M Kossugue; Julia F Paim; Mayana Zatz; Louise V B Anderson; Vincenzo Nigro; Mariz Vainzof
Journal:  J Mol Med (Berl)       Date:  2007-01-30       Impact factor: 4.599

2.  Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.

Authors:  Luca Bello; Paola Melacini; Raffaele Pezzani; Adele D'Amico; Luisa Piva; Emanuela Leonardi; Annalaura Torella; Gianni Soraru; Arianna Palmieri; Gessica Smaniotto; Bruno F Gavassini; Andrea Vianello; Vincenzo Nigro; Enrico Bertini; Corrado Angelini; Silvio C E Tosatto; Elena Pegoraro
Journal:  Eur J Hum Genet       Date:  2012-05-02       Impact factor: 4.246

3.  Muscular dystrophy associated with alpha-dystroglycan deficiency in Sphynx and Devon Rex cats.

Authors:  Paul T Martin; G Diane Shelton; Peter J Dickinson; Beverly K Sturges; Rui Xu; Richard A LeCouteur; Ling T Guo; Robert A Grahn; Harriet P Lo; Kathryn N North; Richard Malik; Eva Engvall; Leslie A Lyons
Journal:  Neuromuscul Disord       Date:  2008-11-05       Impact factor: 4.296

4.  A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations.

Authors:  Stephanie E Wallace; Jessie H Conta; Thomas L Winder; Tobias Willer; Jamie M Eskuri; Richard Haas; Kathleen Patterson; Kevin P Campbell; Steven A Moore; Sidney M Gospe
Journal:  Neuromuscul Disord       Date:  2014-01-11       Impact factor: 4.296

Review 5.  Muscular dystrophies due to defective glycosylation of dystroglycan.

Authors:  F Muntoni; M Brockington; C Godfrey; M Ackroyd; S Robb; A Manzur; M Kinali; E Mercuri; M Kaluarachchi; L Feng; C Jimenez-Mallebrera; E Clement; S Torelli; C A Sewry; S C Brown
Journal:  Acta Myol       Date:  2007-12

6.  A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity.

Authors:  Cecilia Jimenez-Mallebrera; Silvia Torelli; Lucy Feng; Jihee Kim; Caroline Godfrey; Emma Clement; Rachael Mein; Stephen Abbs; Susan C Brown; Kevin P Campbell; Stephan Kröger; Beril Talim; Haluk Topaloglu; Ros Quinlivan; Helen Roper; Anne M Childs; Maria Kinali; Caroline A Sewry; Francesco Muntoni
Journal:  Brain Pathol       Date:  2008-08-07       Impact factor: 6.508

Review 7.  Congenital muscular dystrophies: a brief review.

Authors:  Enrico Bertini; Adele D'Amico; Francesca Gualandi; Stefania Petrini
Journal:  Semin Pediatr Neurol       Date:  2011-12       Impact factor: 1.636

8.  Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease.

Authors:  Josef Voglmeir; Sara Kaloo; Nicolas Laurent; Marco M Meloni; Lisa Bohlmann; Iain B H Wilson; Sabine L Flitsch
Journal:  Biochem J       Date:  2011-06-01       Impact factor: 3.857

9.  An immunological analysis of dystroglycan subunits: lessons learned from a small cohort of non-congenital dystrophic patients.

Authors:  Ernesto Pavoni; Francesca Sciandra; Giorgio Tasca; Roberta Tittarelli; Manuela Bozzi; Bruno Giardina; Enzo Ricci; Andrea Brancaccio
Journal:  Open Neurol J       Date:  2011-10-20

10.  Diagnostic approach to the congenital muscular dystrophies.

Authors:  Carsten G Bönnemann; Ching H Wang; Susana Quijano-Roy; Nicolas Deconinck; Enrico Bertini; Ana Ferreiro; Francesco Muntoni; Caroline Sewry; Christophe Béroud; Katherine D Mathews; Steven A Moore; Jonathan Bellini; Anne Rutkowski; Kathryn N North
Journal:  Neuromuscul Disord       Date:  2014-01-09       Impact factor: 4.296
  10 in total

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