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

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

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia - 1 Oct 2021

Awano Hiroyuki, Saito Yoshihiko, Shimizu Mamiko, Sekiguchi Kenji, Niijima Shinichi, Matsuo Masafumi, Maegaki Yoshihiro, Izumi Isho, Kikuchi Chiya, Ishibashi Masato, Okazaki Tetsuya, Komaki Hirofumi, Iijima Kazumoto, Nishino Ichizo

Abstract excerpt

Mutation in the fukutin-related protein (FKRP) gene causes alpha-dystroglycanopathies, a group of autosomal recessive disorders associated with defective glycosylated alpha-dystroglycan (α-DG). The disease phenotype shows a broad spectrum, from the most severe congenital form involving brain and eye anomalies to milder limb-girdle form. FKRP-related alpha-dystroglycanopathies are common in European countries....

Read the complete abstract on PubMed

Topics

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

Share to Dystroglycans
Share to Muscle, Skeletal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscular Dystrophies

Share to Muscular Dystrophies, Limb-Girdle

Share to Mutation

Share to Pentosyltransferases

Source

Identifiers

PMID: 34509255
DOI: 10.1016/j.jocn.2021.08.014

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

FKRP mutations cause congenital muscular dystrophy 1C and limb-girdle muscular dystrophy 2I in Asian patients.PMID 34509255Read ↗

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

[Fukuyama congenital muscular dystrophy and related alpha-dystroglycanopathies].Semantic proximity Read ↗

Novel FKRP mutations in a Japanese MDC1C sibship clinically diagnosed with Fukuyama congenital muscular dystrophy.Semantic proximity Read ↗

Limb-girdle muscular dystrophy type 2I: two Chinese families and a review in Asian patients.Semantic proximity Read ↗

Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan.Semantic proximity Read ↗

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

<i>Fukutin</i> gene mutations in steroid‐responsive limb girdle muscular dystrophySemantic proximity Read ↗

Broad spectrum of phenotype and genotype in Korean α-dystroglycan related muscular dystrophy presenting to a tertiary pediatric neuromuscular center.Semantic proximity Read ↗

Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients.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 novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex.Semantic proximity Read ↗

Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.Semantic proximity Read ↗

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