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 in Guipúzcoa (Basque Country, Spain).

Brain : a journal of neurology - 1 Sept 1998

Urtasun M, Sáenz A, Roudaut C, Poza J J, Urtizberea J A, Cobo A M, Richard I, García Bragado F, Leturcq F, Kaplan J C, Martí Massó J F, Beckmann J S, López de Munain A

Abstract excerpt

The concept of limb-girdle muscular dystrophy (LGMD) is changing rapidly due to the advances in molecular genetics. Recently, seven different gene loci have been described, demonstrating that limb-girdle muscular dystrophy is a heterogeneous syndrome, which includes different diseases with a similar phenotype. In isolated populations which have little genetic exchange with neighbouring populations, an...

Read the complete abstract on PubMed

Topics

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

Share to Age of Onset
Share to Aged

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Base Sequence

Share to Chromosome Mapping

Share to DNA Primers

Share to Genotype

Share to Isoenzymes

Source

Identifiers

PMID: 9762961
DOI: 10.1093/brain/121.9.1735

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).PMID 9762961Read ↗

Phenotypic and genetic spectrum of patients with limb-girdle muscular dystrophy type 2A from Serbia.Semantic proximity Read ↗

Limb-girdle muscular dystrophy type 2A in Brazilian children.Semantic proximity Read ↗

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A.Semantic proximity Read ↗

LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.Semantic proximity Read ↗

Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins.Semantic proximity Read ↗

Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island.Semantic proximity Read ↗

Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G.Semantic proximity Read ↗

Muscle pathology in 31 patients with calpain 3 gene mutations..Semantic proximity Read ↗

Calpain-3 mutations in Turkey.Semantic proximity Read ↗

A common haplotype associated with the Basque 2362AG --> TCATCT mutation in the muscular calpain-3 gene.Semantic proximity Read ↗

Clinical variability in calpainopathy: what makes the difference?Semantic proximity Read ↗

Epidemiological and Molecular Characterization of a Mexican Population Isolate with High Prevalence of Limb-Girdle Muscular Dystrophy Type 2A Due to a Novel Calpain-3 Mutation.Semantic proximity Read ↗

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