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A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy

  • Published:2017-10-26 Issue:10 Volume:12 Page:e0186642
  • ISSN:1932-6203
  • Container-title:PLOS ONE
  • language:en
  • Short-container-title:PLoS ONE

Author:

Rossi Daniela,Palmio Johanna,Evilä Anni,Galli Lucia,Barone Virginia,Caldwell Tracy A.,Policke Rachel A.,Aldkheil Esraa,Berndsen Christopher E.,Wright Nathan T.,Malfatti Edoardo,Brochier Guy,Pierantozzi Enrico,Jordanova Albena,Guergueltcheva Velina,Romero Norma Beatriz,Hackman Peter,Eymard Bruno,Udd Bjarne,Sorrentino VincenzoORCID

Funder

Research Corporation Cottrell College

NSF REU

4-VA organization

AFM-Telethon

Regione Toscana

Ministero della Salute

Ministero dell’Istruzione, dell’Università e della Ricerca

National Science Foundation

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference42 articles.

1. Genetic treatments in muscular dystrophies;F Muntoni;Curr Opin Neurol,2007

2. Animal models of muscular dystrophy;R Ng;Prog Mol Biol Transl Sci,2012

3. Muscular dystrophies: an update on pathology and diagnosis;CA Sewry;Acta Neuropathol,2010

4. Distal myopathies-new genetic entities expand diagnostic challenge;B Udd;Neuromuscul Disord,2012

5. Distal myopathies: clinical and molecular diagnosis and classification;FL Mastaglia;J Neurol Neurosurg Psychiatry,1999

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