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

A novel FLNC c.5161delG (p.Gly1722ValfsTer61) mutation was identified in two members of a French family affected by distal myopathy and in one healthy relative. This FLNC c.5161delG mutation is one nucleotide away from a previously reported FLNC mutation (c.5160delC) that was identified in patients...

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Detalles Bibliográficos
Autores principales: 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, Vincenzo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5657976/
https://www.ncbi.nlm.nih.gov/pubmed/29073160
http://dx.doi.org/10.1371/journal.pone.0186642

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