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

The Z-disk diseases.

Advances in experimental medicine and biology - 1 Jan 2008

Selcen Duygu, Carpén Olli

Abstract excerpt

Recent studies have identified disease-causing mutations in four genes that encode Z-disk proteins. Mutations in myotilin (MYOT), ZASP and filamin C (FLNC) encoding genes cause autosomal dominant myopathy that manifests in adulthood. The clinical features and morphological changes in myopathies caused by mutations in all three genes are highly similar. The disease typically manifests as distal myopathy, but may...

Read the complete abstract on PubMed

Topics

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

Share to Muscle Fibers, Skeletal
Share to Muscle Proteins
Share to Muscular Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Protein Binding

Source

Identifiers

PMID: 19181098
DOI: 10.1007/978-0-387-84847-1_10

Genes

FLNC
MYOT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The Z-disk diseases.PMID 19181098Read ↗

The Role of Z-disc Proteins in Myopathy and Cardiomyopathy.Semantic proximity Read ↗

Myofibrillar myopathy: towards a mechanism-based definition as a Z-disk-opathy.Semantic proximity Read ↗

Myofibrillar myopathiesSemantic proximity Read ↗

Telethonin and other new proteins of the Z-disc of skeletal muscle.Semantic proximity Read ↗

The Sarcomeric Z‐Disc and Z‐DiscopathiesSemantic proximity Read ↗

Mutations in myotilin cause myofibrillar myopathy.Semantic proximity Read ↗

Mutations in ZASP define a novel form of muscular dystrophy in humans.Semantic proximity Read ↗

[Myofibrillar myopathies].Semantic proximity Read ↗

Molecular pathology of myofibrillar myopathies.Semantic proximity Read ↗

Mitochondrial abnormalities in the myofibrillar myopathiesSemantic proximity Read ↗

Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy.Semantic proximity Read ↗

Myofibrillar myopathy with limb-girdle phenotype in a Thai patient.Semantic proximity Read ↗

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