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

Dysferlinopathy in Chile: evidence of two novel mutations in the first reported cases.

Genetic testing and molecular biomarkers - 1 Feb 2009

Bevilacqua Jorge A, Krahn Martin, Pedraza Luis, Gejman Roger, Gonzalez Sergio, Lévy Nicolas

Abstract excerpt

We describe two Chilean patients with dysferlinopathy, a 32-year-old man with Miyoshi's distal myopathy and a 29-year-old woman with a proximodistal phenotype. Absence of dysferlin in frozen muscle biopsy allowed diagnostic confirmation. In these two patients, two mutations not previously identif...

Read the complete abstract on PubMed

Topics

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

Share to Chile
Share to Distal Myopathies
Share to Dysferlin

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Frameshift Mutation

Share to Indians, South American

Share to Muscle Proteins

Share to Muscular Dystrophies

Share to Muscular Dystrophies, Limb-Girdle

Source

Identifiers

PMID: 19309282
DOI: 10.1089/gtmb.2008.0091

Genes

DYSF

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19309282-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Dysferlinopathy in Chile: evidence of two novel mutations in the first reported cases.PMID 19309282Read ↗

Novel DYSF mutations in Thai patients with distal myopathy.Semantic proximity Read ↗

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

Dysferlinopathies: Clinical and genetic variability.Semantic proximity Read ↗

Two common mutations (p.Gln832X and c.663+1G>C) account for about a third of the DYSF mutations in Korean patients with dysferlinopathy.Semantic proximity Read ↗

Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes.Semantic proximity Read ↗

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

A new dysferlin gene mutation in a Portuguese family with Miyoshi myopathy.Semantic proximity Read ↗

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

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

Dysferlinopathy in Tunisia: clinical spectrum, genetic background and prognostic profile.Semantic proximity Read ↗

Clinical and genetic analysis of Korean patients with Miyoshi myopathy: identification of three novel mutations in the DYSF gene.Semantic proximity Read ↗

Mutation at a new allele of the dysferlin gene causes Miyoshi myopathy: A case report.Semantic proximity Read ↗

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