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 Iran: Clinical and genetic report.

Journal of the neurological sciences - 15 Dec 2015

Fatehi Farzad, Nafissi Shahriar, Urtizberea J Andoni, Blanck-Labelle Véronique, Lévy Nicolas, Krahn Martin, Dbouk Mohamad Baker, Attarian Shahram

Abstract excerpt

BACKGROUND: Dysferlinopathy is caused by a very wide range of autosomal recessively inherited mutations of the Dysferlin gene. It causes a spectrum of muscle diseases including limb-girdle muscular dystrophy (LGMD) 2B and Miyoshi myopathy (MM). We describe the clinical course and mutational analyses of 15 Iranian patients with dysferlinopathy from 9 different families. METHODS: Genomic DNA was extracted from...

Read the complete abstract on PubMed

Topics

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

Share to Dysferlin
Share to Family Health

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Magnetic Resonance Imaging

Share to Membrane Proteins

Share to Muscle Proteins

Share to Muscle, Skeletal

Share to Muscular Dystrophies, Limb-Girdle

Source

Identifiers

PMID: 26671124
DOI: 10.1016/j.jns.2015.11.009

Genes

DYSF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Dysferlinopathy in Iran: Clinical and genetic report.PMID 26671124Read ↗

Dysferlinopathies: Clinical and genetic variability.Semantic proximity Read ↗

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

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

Dysferlinopathies: phenotypic study of a Moroccan series of 28 cases.Semantic proximity Read ↗

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

Challenges for the genetic screening in dysferlin deficiency--report of an instructive case and review of the literature.Semantic proximity Read ↗

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

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

Dysferlinopathies.Semantic proximity Read ↗

The clinical, myopathological, and molecular characteristics of 26 Chinese patients with dysferlinopathy: a high proportion of misdiagnosis and novel variants.Semantic proximity Read ↗

Dysferlin mutations in Japanese Miyoshi myopathy: relationship to phenotype.Semantic proximity Read ↗

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