Identification of an intragenic deletion in the SGCB gene through a re-evaluation of negative next generation sequencing results
•504 myopathic patients have been screened by an NGS approach.•A patient with a strong suspicion of sarcoglycanopathy, due to WB and immunohistochemical studies, was investigated.•The absence of reads on the sixth exon of the β-sarcoglycan gene was identified by a careful re-evaluation of the NGS da...
| Main Authors: | , , , , , |
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| Format: | Online |
| Language: | English |
| Published: |
Pergamon Press
2016
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4879147/ |