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...

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Bibliographic Details
Published in:	Diagnostics
Main Authors:	Nikolay Vladimirovich Zernov, Anna Alekseevna Guskova, Mikhail Yurevich Skoblov
Format:	Article
Language:	English
Published:	MDPI AG 2021-05-01
Subjects:	FSHD1 diagnosis D4Z4 array qPCR genotyping
Online Access:	https://www.mdpi.com/2075-4418/11/6/982

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