A novel SYNE1 gene mutation in a Chinese family of Emery-Dreifuss muscular dystrophy-like
Abstract Background In the present study, a novel mutation in exon 46 at codon 2304 (G2304R) of the SYNE1 gene is described in a Chinese family (proband, mother, and sister) with Emery-Dreifuss muscular dystrophy-like, which clinically manifests as muscle weakness, muscle atrophy, joint contracture,...
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| Main Authors: | , , , , , , , , |
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| Format: | Book |
| Published: |
BMC,
2017-06-01T00:00:00Z.
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| Subjects: | |
| Online Access: | Connect to this object online. |
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