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: A Case Report and Review of the Literature.

Journal of clinical neuromuscular disease - 1 Mar 2026

Acurio Karlos, Pacheco-Barrios Niels, Calisaya-Madariaga Irving G, Váscones-Román Fritz F, Canazas-Paredes Fernando, Chuquilin Miguel

Abstract excerpt

INTRODUCTION: Hereditary myopathy with early respiratory failure (HMERF) is a rare myopathy resulting from a mutation on the TTN region of the titin gene. A case report and a thorough review of PubMed-reported cases were conducted. DESIGN/METHODS: A 53-year-old man reported progressive lower extremity weakness and dyspnea. On examination, he had steppage gait and muscle strength was reduced in lower limb muscles....

Read the complete abstract on PubMed

Topics

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

Share to Aged
Share to Connectin

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electromyography

Share to Genetic Diseases, Inborn

Share to Muscle, Skeletal

Share to Muscle Weakness

Share to Muscular Diseases

Share to Respiratory Insufficiency

Source

Identifiers

PMID: 41766081
DOI: 10.1097/CND.0000000000000549

Genes

TTN

Variants

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

Hereditary Myopathy With Early Respiratory Failure: A Case Report and Review of the Literature.PMID 41766081Read ↗

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

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

Titinopathy, an atypical respiratory failure.Semantic proximity Read ↗

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

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

Hereditary myopathies with early respiratory insufficiency in adults.Semantic proximity Read ↗

Cardiac involvement in hereditary myopathy with early respiratory failure: A cohort study.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 ↗

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 ↗

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

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