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

New disease allele and de novo mutation indicate mutational vulnerability of titin exon 343 in hereditary myopathy with early respiratory failure.

Neuromuscular disorders : NMD - 1 Feb 2015

Yue Dongyue, Gao Mingshi, Zhu Wenhua, Luo Sushan, Xi Jianying, Wang Bei, Li Ying, Cai Shuang, Li Jin, Wang Yin, Lu Jiahong, Zhao Chongbo

Abstract excerpt

We report two patients of Chinese ancestry with hereditary myopathy with early respiratory failure, one sporadic with atypical onset as rigid spine syndrome, the other familial with 10 years' history of hyperCKemia. Muscle biopsy was either nonspecific or typical with cytoplasmic bodies and rimmed vacuoles. Despite the phenotypic variety, both patients showed fatty infiltration of semitendinosus on muscle...

Read the complete abstract on PubMed

Topics

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

Share to Connectin
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Diseases, Inborn

Share to Muscular Diseases

Share to Mutation

Share to Respiratory Insufficiency

Share to Young Adult

Source

Identifiers

PMID: 25500009
DOI: 10.1016/j.nmd.2014.11.005

Genes

TTN

Variants

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

New disease allele and de novo mutation indicate mutational vulnerability of titin exon 343 in hereditary myopathy with early respiratory failure.PMID 25500009Read ↗

A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure.Semantic proximity Read ↗

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

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

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

The constantly evolving spectrum of phenotypes in titinopathies - will it ever stop?Semantic proximity Read ↗

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

Titinopathies: Phenotype - genotype heterogeneity in an Indian cohort.Semantic proximity Read ↗

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

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 (HMERF): Still rare, but common enough.Semantic proximity Read ↗

A Japanese Patient with Hereditary Myopathy with Early Respiratory Failure Due to the p.P31732L Mutation of Titin.Semantic proximity Read ↗

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