Literature DB >> 29205400

Severe asymmetric muscle weakness revealing glycogenin-1 polyglucosan body myopathy.

Tanya Stojkovic1, Anaïs Chanut2, Pascal Laforêt1, Angeline Madelaine2, François Petit3, Norma B Romero1,2, Edoardo Malfatti1,2.   

Abstract

Entities:  

Keywords:  glycogen storage disease XV; glycogenin-1; metabolic myopathies; myopathology; polyglucosan body myopathy-2

Mesh：

Substances：

Year:  2017        PMID： 29205400     DOI： 10.1002/mus.26030

Source DB:  PubMed          Journal:  Muscle Nerve        ISSN： 0148-639X            Impact factor:   3.217


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  3 in total

Review 1.  Update on polyglucosan storage diseases.

Authors:  Giovanna Cenacchi; V Papa; R Costa; V Pegoraro; R Marozzo; M Fanin; C Angelini
Journal:  Virchows Arch       Date:  2019-07-30       Impact factor: 4.064

2.  251st ENMC international workshop: Polyglucosan storage myopathies 13-15 December 2019, Hoofddorp, the Netherlands.

Authors:  Pascal Laforêt; Anders Oldfors; Edoardo Malfatti; John Vissing
Journal:  Neuromuscul Disord       Date:  2021-01-23       Impact factor: 4.296

3.  Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy.

Authors:  Claire Lefeuvre; Stéphane Schaeffer; Robert-Yves Carlier; Maxime Fournier; Françoise Chapon; Valérie Biancalana; Guillaume Nicolas; Edoardo Malfatti; Pascal Laforêt
Journal:  Mol Genet Metab Rep       Date:  2020-05-24
  3 in total

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