Article
Facioscapulohumeral muscular dystrophy-Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease.
Clinical genetics - 1 Feb 2022
Vincenten Sanne C C, Van Der Stoep Nienke, Paulussen Aimée D C, Mul Karlien, Badrising Umesh A, Kriek Marjolein, Van Der Heijden Olivier W H, Van Engelen Baziel G M, Voermans Nicol C, De Die-Smulders Christine E M, Lassche Saskia
Abstract excerpt
Reproductive counseling in facioscapulohumeral muscular dystrophy (FSHD) can be challenging due to the complexity of its underlying genetic mechanisms and due to incomplete penetrance of the disease. Full understanding of the genetic causes and potential inheritance patterns of both distinct FSHD types is essential: FSHD1 is an autosomal dominantly inherited repeat disorder, whereas FSHD2 is a digenic disorder....
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