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

Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure.

Journal of neurology, neurosurgery, and psychiatry - 1 May 2015

Uruha Akinori, Hayashi Yukiko K, Oya Yasushi, Mori-Yoshimura Madoka, Kanai Masahiro, Murata Miho, Kawamura Mayumi, Ogata Katsuhisa, Matsumura Tsuyoshi, Suzuki Shigeaki, Takahashi Yukako, Kondo Takayuki, Kawarabayashi Takeshi, Ishii Yuko, Kokubun Norito, Yokoi Satoshi, Yasuda Rei, Kira Jun-ichi, Mitsuhashi Satomi, Noguchi Satoru, Nonaka Ikuya, Nishino Ichizo

Abstract excerpt

BACKGROUND: In hereditary myopathy with early respiratory failure (HMERF), cytoplasmic bodies (CBs) are often localised in subsarcolemmal regions, with necklace-like alignment (necklace CBs), in muscle fibres although their sensitivity and specificity are unknown. OBJECTIVE: To elucidate the diag...

Read the complete abstract on PubMed

Topics

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

Share to Connectin
Share to Cytoplasm

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Diseases, Inborn

Share to Muscle Proteins

Share to Muscle, Skeletal

Share to Muscular Diseases

Share to Protein Aggregation, Pathological

Share to Respiratory Insufficiency

Source

Identifiers

PMID: 25253871
DOI: 10.1136/jnnp-2014-309009

Genes

TTN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25253871-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 11 closest

Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure.PMID 25253871Read ↗

Clinical, pathological, and molecular genetic analysis of 7 Chinese patients with hereditary myopathy with early respiratory failure.Semantic proximity Read ↗

Hereditary myopathy with early respiratory failure: occurrence in various populations.Semantic proximity Read ↗

Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure.Semantic proximity Read ↗

Cytoplasmic body pathology in severe ACTA1-related myopathy in the absence of typical nemaline rods.Semantic proximity Read ↗

Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure.Semantic proximity Read ↗

"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy.Semantic proximity Read ↗

Hereditary myopathy with early respiratory failure is associated with misfolding of the titin fibronectin III 119 subdomain.Semantic proximity Read ↗

Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domainSemantic proximity Read ↗

Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related MyopathiesSemantic proximity Read ↗

Reducing body myopathy with cytoplasmic bodies and rigid spine syndrome: a mixed congenital myopathy.Semantic proximity Read ↗

New variant of necklace fibres display peculiar lysosomal structures and mitophagy.Semantic proximity Read ↗

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