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

Myosin Storage Myopathy in C. elegans and Human Cultured Muscle Cells.

PloS one - 1 Jan 2017

Dahl-Halvarsson Martin, Pokrzywa Malgorzata, Rauthan Manish, Pilon Marc, Tajsharghi Homa

Abstract excerpt

Myosin storage myopathy is a protein aggregate myopathy associated with the characteristic subsarcolemmal accumulation of myosin heavy chain in muscle fibers. Despite similar histological findings, the clinical severity and age of onset are highly variable, ranging from no weakness to severe impairment of ambulation, and usually childhood-onset to onset later in life. Mutations located in the distal end of the...

Read the complete abstract on PubMed

Topics

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

Share to Muscular Dystrophy, Emery-Dreifuss
Share to Actin Cytoskeleton

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Muscle Cells

Share to Muscle Fibers, Skeletal

Share to Muscular Diseases

Share to Myosins

Share to Protein Aggregation, Pathological

Share to Sarcomeres

Source

Open in PubMed Open full text

Identifiers

PMID: 28125727
DOI: 10.1371/journal.pone.0170613
PMCID: PMC5268365

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Myosin Storage Myopathy in C. elegans and Human Cultured Muscle Cells.PMID 28125727Read ↗

Myosin storage myopathy mutations yield defective myosin filament assembly in vitro and disrupted myofibrillar structure and function in vivoSemantic proximity Read ↗

Dominant myosin storage myopathy mutations disrupt striated muscles in Drosophila and the myosin tail-tail interactome of human cardiac thick filaments.Semantic proximity Read ↗

Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms.Semantic proximity Read ↗

A fluorescent folding reporter uncovers myosin misfolding as a driver of Hypertrophic CardiomyopathySemantic proximity Read ↗

Effects of pathogenic proline mutations on myosin assembly.Semantic proximity Read ↗

<i>Caenorhabditis elegans</i> models for striated muscle disorders caused by missense variants of human <i>LMNA</i>Semantic proximity Read ↗

Challenging muscle homeostasis uncovers novel chaperone interactions in Caenorhabditis elegansSemantic proximity Read ↗

Thick filament diseases.Semantic proximity Read ↗

Myosinopathies: pathology and mechanisms.Semantic proximity Read ↗

Mutations in Caenorhabditis elegans actin, which are equivalent to human cardiomyopathy mutations, cause abnormal actin aggregation in nematode striated muscleSemantic proximity Read ↗

Myosin storage myopathy associated with a heterozygous missense mutation in <i>MYH7</i>Semantic proximity Read ↗

A Caenorhabditis elegans model of the myosin heavy chain IIa E706K [corrected] mutation.Semantic proximity Read ↗

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