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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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| Publicado no: | Neuromuscul Disord |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Pergamon Press
2016
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| Assuntos: | |
| Acesso em linha: | 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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