Genotype-phenotype correlations in FSHD

• Main Authors: Nikolay Zernov (Author), Mikhail Skoblov (Author)
• Format: Knjiga
• Izdano: BMC, 2019-03-01T00:00:00Z.
• Teme: article
• Online dostop: Connect to this object online.

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),...