Search

Your search keyword '"Lidia Burr"' showing total 2 results
Start Over Author "Lidia Burr"
2 results on '"Lidia Burr"'

1. Compound Heterozygous

Author

Anna, Gaertner, Lidia, Burr, Baerbel, Klauke, Andreas, Brodehl, Kai Thorsten, Laser, Karin, Klingel, Jens, Tiesmeier, Uwe, Schulz, Edzard Zu, Knyphausen, Jan, Gummert, and Hendrik, Milting

Subjects
Cardiomyopathy, Dilated, Glycosylation, Mutation, Humans, Membrane Proteins, Dystroglycans, Muscle, Skeletal, Muscular Dystrophies
Abstract

Fukutin encoded by

Published
2022

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

Author

Anna Gaertner, Lidia Burr, Baerbel Klauke, Andreas Brodehl, Kai Thorsten Laser, Karin Klingel, Jens Tiesmeier, Uwe Schulz, Edzard zu Knyphausen, Jan Gummert, and Hendrik Milting

Subjects
carbohydrates (lipids), musculoskeletal diseases, Inorganic Chemistry, animal structures, Organic Chemistry, General Medicine, Physical and Theoretical Chemistry, Molecular Biology, cardiogenetics, cardiomyopathy, dystroglycanopathy, fukutin, heart failure, Spectroscopy, Catalysis, Computer Science Applications
Abstract

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 including dilated cardiomyopathy and muscular dystrophy. In this study, we reported the case of a patient with muscular dystrophy, early onset dilated cardiomyopathy, and elevated creatine kinase levels who was a carrier of the compound heterozygous variants p.Ser299Arg and p.Asn442Ser in FKTN. Our work showed that compound heterozygous mutations in FKTN lead to a loss of fully glycosylated α-dystroglycan and result in cardiomyopathy and end-stage heart failure at a young age.

Published
2022
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results