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

Skeletal muscle α-actin diseases (actinopathies): pathology and mechanisms.

Acta neuropathologica - 1 Jan 2013

Nowak Kristen J, Ravenscroft Gianina, Laing Nigel G

Abstract excerpt

Mutations in the skeletal muscle α-actin gene (ACTA1) cause a range of congenital myopathies characterised by muscle weakness and specific skeletal muscle structural lesions. Actin accumulations, nemaline and intranuclear bodies, fibre-type disproportion, cores, caps, dystrophic features and zebra bodies have all been seen in biopsies from patients with ACTA1 disease, with patients frequently presenting with...

Read the complete abstract on PubMed

Topics

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

Share to Actins
Share to ACTA1 gene
Share to Muscle Contraction

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscle Physiology and Disorders

Share to Muscle Weakness

Share to Mutation

Share to Myopathies, Nemaline

Share to Phenotype

Source

Identifiers

PMID: 22825594
DOI: 10.1007/s00401-012-1019-z

Genes

ACTA1

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

Skeletal muscle α-actin diseases (actinopathies): pathology and mechanisms.PMID 22825594Read ↗

Skeletal muscle alpha-actin diseases.Semantic proximity Read ↗

Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1).Semantic proximity Read ↗

Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).Semantic proximity Read ↗

Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies.Semantic proximity Read ↗

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.Semantic proximity Read ↗

Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.Semantic proximity Read ↗

Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine.Semantic proximity Read ↗

Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations.Semantic proximity Read ↗

Congenital myopathies: diseases of the actin cytoskeleton.Semantic proximity Read ↗

Genotype-phenotype correlations in ACTA1 mutations that cause congenital myopathies.Semantic proximity Read ↗

Novel ACTA1 mutation causes late-presenting nemaline myopathy with unusual dark cores.Semantic proximity Read ↗

Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies.Semantic proximity Read ↗

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