Genotype-phenotype correlations in FSHD

Genotype-phenotype correlations in FSHD

Abstract Background Facial-scapular-humeral myodystrophy Landouzy-Dejerine (FSHD) is an autosomal dominant disease, the basis of its pathogenesis is ectopic expression of the transcription factor DUX4 in skeletal muscle. There are two types of the disease: FSHD1 (MIM:158900) and FSHD2 (MIM: 158901),...

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Bibliographic Details
Main Authors: Nikolay Zernov, Mikhail Skoblov
Format: Article
Language:English
Published: BMC 2019-03-01
Series:BMC Medical Genomics
Subjects:
Inherited disease
FSHD
D4Z4
Genotype-phenotype correlation
Methylation
Anticipation
Online Access:http://link.springer.com/article/10.1186/s12920-019-0488-5

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http://link.springer.com/article/10.1186/s12920-019-0488-5

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