Compound Heterozygous FKTN Variants in a Patient with Dilated Cardiomyopathy Led to an Aberrant α-Dystroglycan Pattern

Fukutin encoded by FKTN is a ribitol 5-phosphate transferase involved in glycosylation of α-dystroglycan. It is known that mutations in FKTN affect the glycosylation of α-dystroglycan, leading to a dystroglycanopathy. Dystroglycanopathies are a group of syndromes with a broad clinical spectrum inclu...

Descripción completa

Detalles Bibliográficos
Autores principales: Gaertner, Anna, Burr, Lidia, Klauke, Baerbel, Brodehl, Andreas, Laser, Kai Thorsten, Klingel, Karin, Tiesmeier, Jens, Schulz, Uwe, zu Knyphausen, Edzard, Gummert, Jan, Milting, Hendrik
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9223741/
https://www.ncbi.nlm.nih.gov/pubmed/35743126
http://dx.doi.org/10.3390/ijms23126685

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9223741/
https://www.ncbi.nlm.nih.gov/pubmed/35743126
http://dx.doi.org/10.3390/ijms23126685

Ejemplares similares