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

Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin.

Brain : a journal of neurology - 1 Jun 2012

Ohlsson Monica, Hedberg Carola, Brådvik Björn, Lindberg Christopher, Tajsharghi Homa, Danielsson Olof, Melberg Atle, Udd Bjarne, Martinsson Tommy, Oldfors Anders

Abstract excerpt

Hereditary myopathy with early respiratory failure and extensive myofibrillar lesions has been described in sporadic and familial cases and linked to various chromosomal regions. The mutated gene is unknown in most cases. We studied eight individuals, from three apparently unrelated families, with clinical and pathological features of hereditary myopathy with early respiratory failure. The investigations included...

Read the complete abstract on PubMed

Topics

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

Share to Connectin
Share to Extremities

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

Share to Microscopy, Electron, Transmission

Share to Muscle Proteins

Share to Muscular Diseases

Share to Neural Cell Adhesion Molecules

Share to Respiratory Insufficiency

Share to Sweden

Source

Identifiers

PMID: 22577218
DOI: 10.1093/brain/aws103

Genes

TTN

Variants

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

Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin.PMID 22577218Read ↗

Titin mutation segregates with hereditary myopathy with early respiratory failure.Semantic proximity Read ↗

Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins.Semantic proximity Read ↗

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

Hereditary myopathy with early respiratory failure (HMERF): Still rare, but common enough.Semantic proximity Read ↗

A Case Report and Literature Review of Hereditary Myopathy with Early Respiratory FailureSemantic proximity Read ↗

A rising titan: TTN review and mutation update.Semantic proximity Read ↗

Hereditary Myopathy With Early Respiratory Failure: A Case Report and Review of the Literature.Semantic proximity Read ↗

Knock-in Mouse Model of Hereditary Myopathy with Early Respiratory Failure Carrying the Titin Variant Corresponding to Human p.N31786KSemantic proximity Read ↗

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

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.Semantic proximity Read ↗

Identification of a Novel Mutation in the Titin Gene in a Chinese Family with Limb-Girdle Muscular Dystrophy 2J.Semantic proximity Read ↗

Titinopathy, an atypical respiratory failure.Semantic proximity Read ↗

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