Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

International journal of molecular sciences - 15 Jun 2022

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

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cardiomyopathy, Dilated
Share to Dystroglycans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Glycosylation

Share to Membrane Proteins

Share to Muscle, Skeletal

Share to Muscular Dystrophies

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 35743126
DOI: 10.3390/ijms23126685
PMCID: PMC9223741

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Compound Heterozygous FKTN Variants in a Patient with Dilated Cardiomyopathy Led to an Aberrant α-Dystroglycan Pattern.PMID 35743126Read ↗

A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex.Semantic proximity Read ↗

Phenotypic Spectrum of α-Dystroglycanopathies Associated With the c.919T>a Variant in the FKRP Gene in Humans and Mice.Semantic proximity Read ↗

A new mutation of the fukutin gene causing late-onset limb girdle muscular dystrophy.Semantic proximity Read ↗

Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation.Semantic proximity Read ↗

Fukutin mutations in congenital muscular dystrophies with defective glycosylation of dystroglycan in Korea.Semantic proximity Read ↗

FKRP mutations cause congenital muscular dystrophy 1C and limb-girdle muscular dystrophy 2I in Asian patients.Semantic proximity Read ↗

FKRP mutations, including a founder mutation, cause phenotype variability in Chinese patients with dystroglycanopathies.Semantic proximity Read ↗

Muscular Dystrophy with Ribitol-Phosphate Deficiency: A Novel Post-Translational Mechanism in DystroglycanopathySemantic proximity Read ↗

A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum.Semantic proximity Read ↗

FKRP-dependent glycosylation of fibronectin regulates muscle pathology in muscular dystrophy.Semantic proximity Read ↗

Defective glycosylation in congenital muscular dystrophies.Semantic proximity Read ↗

Direct Mapping of Additional Modifications on Phosphorylated O-glycans of α-Dystroglycan by Mass Spectrometry Analysis in Conjunction with Knocking Out of Causative Genes for Dystroglycanopathy.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.