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A novel pathogenic variant in TNPO3 in a Hungarian family with limb-girdle muscular dystrophy 1F

  • Published:2019-07 Issue:7 Volume:62 Page:103662
  • ISSN:1769-7212
  • Container-title:European Journal of Medical Genetics
  • language:en
  • Short-container-title:European Journal of Medical Genetics

Author:

Pál Endre,Zima Judith,Hadzsiev Kinga,Ito Yoko A.,Hartley Taila,Boycott Kym M.,Melegh Béla

Funder

Canadian Institutes of Health Research

Ontario Genomics Institute

Ontario Research Fund

Children’s Hospital of Eastern Ontario Foundation

Hungarian Science Foundation NKFIH

University of Pécs, Medical School, Pécs, Hungary

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference19 articles.

1. Limb girdle muscular dystrophies: clinical-genetical diagnostic update and prospects for therapy;Angelini;Exp. Opin. Orphan Drugs.,2017

2. FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project;Beaulieu;Am. J. Hum. Genet.,2014

3. Ultrastructural changes in LGMD1F;Cenacchi;Neuropathology,2013

4. The role of TNPO3 in HIV-1 replication;Diaz-Griffero;Mol. Biol. Int.,2012

5. Muscle MRI in muscular dystrophies;Diaz-Manera;Acta Myol.,2015

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