Three novel FHL1 variants cause a mild phenotype of Emery‐Dreifuss muscular dystrophy

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...

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Detalles Bibliográficos
Autores principales: Borch, Josefine d. S., Krag, Thomas, Holm‐Yildiz, Sonja D., Cetin, Hakan, Solheim, Tuva A., Fornander, Freja, Straub, Volker, Duno, Morten, Vissing, John
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Brief Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9545859/
https://www.ncbi.nlm.nih.gov/pubmed/35607917
http://dx.doi.org/10.1002/humu.24415

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9545859/
https://www.ncbi.nlm.nih.gov/pubmed/35607917
http://dx.doi.org/10.1002/humu.24415

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