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

Clinical and genetic characteristics of Emery-Dreifuss muscular dystrophy patients from Turkey: 30 years longitudinal follow-up study.

Neuromuscular disorders : NMD - 1 Sept 2022

Yunisova Gulshan, Ceylaner Serdar, Oflazer Piraye, Deymeer Feza, Parman Yesim Gülşen, Durmus Hacer

Abstract excerpt

Emery-Dreifuss muscular dystrophy (EDMD) is a rare inherited disorder usually presenting in childhood with early contractures, slowly progressive scapulohumeroperoneal weakness/atrophy and potentially fatal dilated cardiomyopathy with conduction defects. We evaluated clinical and genetic findings of 32 patients with EDMD phenotype from 14 unrelated families, diagnosed at the Department of Neurology, Istanbul...

Read the complete abstract on PubMed

Topics

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

Share to Follow-Up Studies
Share to Muscular Dystrophy, Emery-Dreifuss

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Phenotype

Share to Turkey

Source

Identifiers

PMID: 35922275
DOI: 10.1016/j.nmd.2022.07.397

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical and genetic characteristics of Emery-Dreifuss muscular dystrophy patients from Turkey: 30 years longitudinal follow-up study.PMID 35922275Read ↗

X-linked Emery-Dreifuss muscular dystrophy: a multicenter, Italian, cohort study.Semantic proximity Read ↗

Clinical aspects of Emery-Dreifuss muscular dystrophy.Semantic proximity Read ↗

Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report.Semantic proximity Read ↗

Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.Semantic proximity Read ↗

Emery-Dreifuss muscular dystrophy.Semantic proximity Read ↗

Prevalence and disease progression of genetically-confirmed facioscapulohumeral muscular dystrophy type 1 (FSHD1) in China between 2001 and 2020: a nationwide population-based studySemantic proximity Read ↗

The Emery-Dreifuss Muscular Dystrophy Mutation Database.Semantic proximity Read ↗

Clinical and genetic spectra in patients with dystrophinopathy in Korea: A single-center study.Semantic proximity Read ↗

Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy.Semantic proximity Read ↗

Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.Semantic proximity Read ↗

Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy.Semantic proximity Read ↗

The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients.Semantic proximity Read ↗

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