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

Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I.

Archives of neurology - 1 Dec 2005

Boito Chiara A, Melacini Paola, Vianello Andrea, Prandini Paola, Gavassini Bruno F, Bagattin Alessia, Siciliano Gabriele, Angelini Corrado, Pegoraro Elena

Abstract excerpt

BACKGROUND: Limb-girdle muscular dystrophy type 2I is caused by mutations in the fukutin-related protein gene (FKRP). FKRP encodes a putative glycosyltransferase protein that is involved in alpha-dystroglycan glycosylation. OBJECTIVES: To identify patients with limb-girdle muscular dystrophy type 2I and to derive genotype-phenotype correlations. DESIGN: Two hundred fourteen patients who showed muscle...

Read the complete abstract on PubMed

Topics

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

Share to Proteins
Share to Age of Onset

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cardiomyopathy, Dilated

Share to Dystroglycans

Share to Muscle, Skeletal

Share to Muscular Dystrophies, Limb-Girdle

Share to Pentosyltransferases

Share to Respiratory Insufficiency

Source

Identifiers

PMID: 16344347
DOI: 10.1001/archneur.62.12.1894

Genes

FKRP

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

Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I.PMID 16344347Read ↗

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

Limb girdle muscular dystrophy type 2I: No correlation between clinical severity, histopathology and glycosylated α-dystroglycan levels in patients homozygous for common FKRP mutation.Semantic proximity Read ↗

Prevalence, mutation spectrum and phenotypic variability in Norwegian patients 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 ↗

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

Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation.Semantic proximity Read ↗

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

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.Semantic proximity Read ↗

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

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

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

Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients.Semantic proximity Read ↗

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