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

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

European journal of pediatrics - 1 Jan 2006

von der Hagen Maja, Kaindl Angela M, Koehler Kathrin, Mitzscherling Petra, Häusler Hans-Jürgen, Stoltenburg-Didinger Gisela, Huebner Angela

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Diagnosis, Differential
Share to Genetic Linkage
Share to Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscular Dystrophies, Limb-Girdle

Share to Mutation, Missense

Share to Myositis

Share to Pentosyltransferases

Share to Proteins

Source

Identifiers

PMID: 16143867
DOI: 10.1007/s00431-005-1752-6

Genes

FKRP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Limb girdle muscular dystrophy type 2I caused by a novel missense mutation in the FKRP gene presenting as acute virus-associated myositis in infancy.PMID 16143867Read ↗

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

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

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

Inflammation and response to steroid treatment in limb-girdle muscular dystrophy 2I.Semantic proximity Read ↗

Novel presentation of Pompe disease: Inclusion-body myositis-like clinical phenotype.Semantic proximity Read ↗

Adult-Onset Myopathy in a Patient with Hypomorphic RAG2 Mutations and Combined Immune Deficiency.Semantic proximity Read ↗

Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9.Semantic proximity Read ↗

Mild limb girdle muscular dystrophy R9 phenotype caused by novel compound heterozygous FKRP gene mutation.Semantic proximity Read ↗

Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I.Semantic proximity Read ↗

Heterozygous Fabry disease complicated by acute onset paralysis.Semantic proximity Read ↗

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

Mutation analysis in the FKRP gene provides an explanation for a rare cause of intrafamilial clinical variability in LGMD2I.Semantic proximity Read ↗

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