Four Individuals with a Homozygous Mutation in Exon 1f of the <i>PLEC</i> Gene and Associated Myasthenic Features
We identified the known c.1_9del mutation in the <i>PLEC</i> gene in four unrelated females from consanguineous families of Turkish origin. All individuals presented with slowly progressive limb-girdle weakness without any dermatological findings, and dystrophic changes observed in their...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2020-06-01
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| Series: | Genes |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2073-4425/11/7/716 |