Article
Three novel FHL1 variants cause a mild phenotype of Emery-Dreifuss muscular dystrophy.
Human mutation - 1 Sept 2022
Borch Josefine D S, Krag Thomas, Holm-Yildiz Sonja D, Cetin Hakan, Solheim Tuva A, Fornander Freja, Straub Volker, Duno Morten, Vissing John
Abstract excerpt
Emery-Dreifuss muscular dystrophy (EDMD) is a hereditary muscle disease, characterized by the clinical triade of early-onset joint contractures, progressive muscle weakness, and cardiac involvement. Pathogenic variants in FHL1 can cause a rare X-linked recessive form of EDMD, type 6. We report three men with novel variants in FHL1 leading to EDMD6. The onset of muscle symptoms was in late adulthood and muscle...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.