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

Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness

17 Aug 2007

Abstract excerpt

OBJECTIVE: Mutations in the alpha-skeletal actin gene (ACTA1) result in a variety of inherited muscle disorders characterized by different pathologies and variable clinical phenotypes. Mutations at Val163 in ACTA1 result in pure intranuclear rod myopathy; however, the molecular mechanisms by which mutations at Val163 lead to intranuclear rod formation and muscle weakness are unknown. METHODS AND RESULTS: We...

Read the complete abstract on PubMed

Topics

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

Share to Cardiomyopathy and Myosin Studies
Share to Muscle Physiology and Disorders
Share to Nuclear Structure and Function

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 17705262
DOI: 10.1002/ana.21200

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weaknessPMID 17705262Read ↗

Mechanisms underlying intranuclear rod formation.Semantic proximity Read ↗

Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms.Semantic proximity Read ↗

Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred.Semantic proximity Read ↗

Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle function.Semantic proximity Read ↗

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

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

Actin nemaline myopathy mouse reproduces disease, suggests other actin disease phenotypes and provides cautionary note on muscle transgene expression.Semantic proximity Read ↗

Skeletal muscle alpha-actin diseases.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 ↗

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 ↗

Dilated cardiomyopathy-associated skeletal muscle actin (ACTA1) mutation R256H disrupts actin structure and function and causes cardiomyocyte hypocontractilitySemantic proximity Read ↗

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