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

X-linked Emery-Dreifuss muscular dystrophy with lamin A deficiency and IBM inclusions.

Clinical neuropathology - 1 Jan 2000

Fidzianska A, Niebrój-Dobosz I, Madej-Pilarczyk A, Duong N T, Wehnert M

Abstract excerpt

The study demonstrates a 12-year-old patient with progressive proximal muscle weakness, joint contractures, rigidity of the neck, and absence of emerin and lamin A in the muscle nuclei, which is caused by intronic mutation IVS3-27del18 (c.266-27del18) in the emerin gene. The most surprising findi...

Read the complete abstract on PubMed

Topics

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

Share to Blotting, Western
Share to Inclusion Bodies
Share to Lamin Type A

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Membrane Proteins

Share to Microscopy, Electron, Transmission

Share to Muscle, Skeletal

Share to Muscular Dystrophy, Emery-Dreifuss

Share to Nuclear Proteins

Source

Identifiers

PMID: 20175956
DOI: 10.5414/npp29078

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20175956-2026-09-02.2. 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

X-linked Emery-Dreifuss muscular dystrophy with lamin A deficiency and IBM inclusions.PMID 20175956Read ↗

Nuclear changes in a case of X-linked Emery-Dreifuss muscular dystrophy.Semantic proximity Read ↗

Emery-Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies.Semantic proximity Read ↗

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

Emery-Dreifuss muscular dystrophy at the nuclear envelope: 10 years on.Semantic proximity Read ↗

Coexistence of X-linked recessive Emery-Dreifuss muscular dystrophy with inclusion body myositis-like morphology.Semantic proximity Read ↗

Emery-Dreifuss muscular dystrophy.Semantic proximity Read ↗

Architectural abnormalities in muscle nuclei. Ultrastructural differences between X-linked and autosomal dominant forms of EDMD.Semantic proximity Read ↗

Emery-Dreifuss muscular dystrophy.Semantic proximity Read ↗

Emerin in health and disease.Semantic proximity Read ↗

The role of the nuclear envelope in Emery-Dreifuss muscular dystrophy.Semantic proximity Read ↗

Multiple and surprising new functions for emerin, a nuclear membrane protein.Semantic proximity Read ↗

Emery-Dreifuss muscular dystrophy.Semantic proximity Read ↗

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