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

Dilated cardiomyopathy may be an early sign of the C826A Fukutin-related protein mutation.

Neuromuscular disorders : NMD - 1 May 2005

Müller T, Krasnianski M, Witthaut R, Deschauer M, Zierz S

Abstract excerpt

Limb-girdle muscular dystrophy LGMD2I is caused by mutations in the fukutin-related protein (FKRP) gene. Clinically, LGMD2I exhibits a great phenotypic variability ranging from severe, rapidly progressive weakness and wasting of the limb-girdle muscles to mild disorders. Here, we present three si...

Read the complete abstract on PubMed

Topics

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

Share to Alanine
Share to Cardiomyopathy, Dilated
Share to Creatine Kinase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cysteine

Share to Muscle, Skeletal

Share to Pentosyltransferases

Share to Siblings

Source

Identifiers

PMID: 15833432
DOI: 10.1016/j.nmd.2005.02.004

Genes

FKRP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-15833432-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Dilated cardiomyopathy may be an early sign of the C826A Fukutin-related protein mutation.PMID 15833432Read ↗

A novel FKRP gene mutation in a Taiwanese patient with limb-girdle muscular dystrophy 2I.Semantic proximity Read ↗

Clinical and mutational spectrum of limb-girdle muscular dystrophy type 2I in 11 French patients.Semantic proximity Read ↗

The phenotype of limb-girdle muscular dystrophy type 2I.Semantic proximity Read ↗

[The clinical spectrum of limb-girdle muscular dystrophies type 2I in cases of a mutation in the "fukutin-related- protein"-gene].Semantic proximity Read ↗

Magnetic Resonance Imaging Findings in the Muscle Tissue of Patients with Limb Girdle Muscular Dystrophy Type 2I Harboring the Founder Mutation c.545A>G in the FKRP Gene.Semantic proximity Read ↗

[Phenotypic aspects of FKRP-linked muscular dystrophy type 2I in a series of eleven patients].Semantic proximity Read ↗

Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I.Semantic proximity Read ↗

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

Cardiomyopathy in limb girdle muscular dystrophy R9, FKRP related.Semantic proximity Read ↗

Limb girdle muscular dystrophy type 2I caused by a novel missense mutation in the FKRP gene presenting as acute virus-associated myositis in infancy.Semantic proximity Read ↗

Variable cardiac involvement in Tunisian siblings harboring FKRP gene mutations.Semantic proximity Read ↗

High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark.Semantic proximity Read ↗

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