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

Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population.

Archives of neurology - 1 Aug 2005

Vilchez Juan J, Gallano Pia, Gallardo Eduard, Lasa Adriana, Rojas-García Ricardo, Freixas Alba, De Luna Noemí, Calafell Francesc, Sevilla Teresa, Mayordomo Fernando, Baiget Montserrat, Illa Isabel

Abstract excerpt

BACKGROUND: Mutations in the dysferlin (DYSF) gene cause 3 different phenotypes of muscular dystrophies: Miyoshi myopathy, limb-girdle muscular dystrophy type 2B, and distal anterior compartment myopathy. OBJECTIVE: To present the results of clinical and molecular analysis of 8 patients with dysferlinopathy from 5 unrelated families. DESIGN: Clinical assessment was performed with a standardized protocol. A muscle...

Read the complete abstract on PubMed

Topics

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

Share to Codon, Nonsense
Share to Dysferlin

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

Share to Founder Effect

Share to Homozygote

Share to Muscle Proteins

Share to Muscular Dystrophies

Share to Point Mutation

Source

Identifiers

PMID: 16087766
DOI: 10.1001/archneur.62.8.1256

Genes

DYSF

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

Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population.PMID 16087766Read ↗

Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects.Semantic proximity Read ↗

Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies.Semantic proximity Read ↗

Dysferlinopathies: Clinical and genetic variability.Semantic proximity Read ↗

Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy.Semantic proximity Read ↗

Analysis of the DYSF mutational spectrum in a large cohort of patients.Semantic proximity Read ↗

A novel biallelic mutation in the DYSF gene as a cause of Miyoshi myopathy.Semantic proximity Read ↗

Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population.Semantic proximity Read ↗

Genetic variability in Iranian limb-girdle muscular dystrophy type 2B patients: An evidence of a founder effect.Semantic proximity Read ↗

Dysferlinopathy in Iran: Clinical and genetic report.Semantic proximity Read ↗

DYSF mutation analysis in a group of Chinese patients with dysferlinopathy.Semantic proximity Read ↗

Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49-51.Semantic proximity Read ↗

Dysferlin homozygous mutation G1418D causes limb-girdle type 2B in a Mexican family.Semantic proximity Read ↗

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