FSHD1 Diagnosis in a Russian Population Using a qPCR-Based Approach
Facioscapulohumeral dystrophy (FSHD) is an autosomal dominant myodystrophy. Approximately 95% of cases of FSHD are caused by partial deletion of the D4Z4 macrosatellite tandem repeats on chromosome 4q35. The existing FSHD1 diagnostic methods are laborious and not widely used. Here, we present a comp...
Main Authors: | , , |
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Format: | Article |
Language: | English |
Published: |
MDPI AG
2021-05-01
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Series: | Diagnostics |
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Online Access: | https://www.mdpi.com/2075-4418/11/6/982 |