Identification of an intragenic deletion in the SGCB gene through a re-evaluation of negative next generation sequencing results

A large mutation screening of 504 patients with muscular dystrophy or myopathy has been performed by next generation sequencing (NGS). Among this cohort of patients, we report a case with a severe form of muscular dystrophy with a proximal weakness in the limb-girdle muscles. Her biopsy revealed typ...

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Detalles Bibliográficos
Publicado en:Neuromuscul Disord
Main Authors: Giugliano, Teresa, Fanin, Marina, Savarese, Marco, Piluso, Giulio, Angelini, Corrado, Nigro, Vincenzo
Formato: Artigo
Idioma:Inglês
Publicado: Pergamon Press 2016
Assuntos:
Case Report
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4879147/
https://ncbi.nlm.nih.gov/pubmed/27108072
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2016.02.013
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