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

BAG3-related myofibrillar myopathy: a further observation with cardiomyopathy at onset in pediatric age.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology - 1 Dec 2021

Scarpini Gaia, Valentino Maria Lucia, Giannotta Melania, Ragni Luca, Torella Annalaura, Columbaro Marta, Nigro Vincenzo, Pini Antonella

Abstract excerpt

Myofibrillar myopathies are a heterogeneous group of neuromuscular disorders characterized by degeneration of Z-disk, causing the disintegration of myofibrils. They may be caused by mutations in different genes, among these, the BAG3 gene (Bcl-2 associed-athanogene-3) encodes a multidomain protein that plays an important role in many cellular processes. We report the case of a 16-year-old male who at 4 years of...

Read the complete abstract on PubMed

Topics

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

Share to Adaptor Proteins, Signal Transducing
Share to Adolescent

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Apoptosis Regulatory Proteins

Share to Cardiomyopathies

Share to Mutation

Share to Myopathies, Structural, Congenital

Source

Open in PubMed Open full text

Identifiers

PMID: 35047758
DOI: 10.36185/2532-1900-061
PMCID: PMC8744013

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

BAG3-related myofibrillar myopathy: a further observation with cardiomyopathy at onset in pediatric age.PMID 35047758Read ↗

BAG3-related myopathy, polyneuropathy and cardiomyopathy with long QT syndrome.Semantic proximity Read ↗

Wide Spectrum of Cardiac Phenotype in Myofibrillar Myopathy Associated With a Bcl-2-Associated Athanogene 3 Mutation: A Case Report and Literature Review.Semantic proximity Read ↗

BAG3 Myopathy Presenting With Prominent Neuropathic Phenotype and No Cardiac or Respiratory Involvement: A Case Report and Literature Review.Semantic proximity Read ↗

BAG3 myopathy is not always associated with cardiomyopathy.Semantic proximity Read ↗

Myofibrillar myopathies.Semantic proximity Read ↗

BAG3-Related Myofibrillar Myopathy Presenting as Hypercapnia: A Case Report and Literature Review.Semantic proximity Read ↗

[A case of myofibrillary myopathy due to Bcl2-Associated Athanogene 3 (BAG3) mutation complicated by peripheral neuropathy].Semantic proximity Read ↗

Mutation in BAG3 causes severe dominant childhood muscular dystrophy.Semantic proximity Read ↗

BAG3-related myofibrillar myopathy in a Chinese family.Semantic proximity Read ↗

Advances in the role and mechanism of BAG3 in dilated cardiomyopathy.Semantic proximity Read ↗

Rigid spine syndrome associated with sensory-motor axonal neuropathy resembling Charcot-Marie-Tooth disease is characteristic of Bcl-2-associated athanogene-3 gene mutations even without cardiac involvement.Semantic proximity Read ↗

Whole exome sequencing identified 1 base pair novel deletion in BCL2-associated athanogene 3 (BAG3) gene associated with severe dilated cardiomyopathy (DCM) requiring heart transplant in multiple family members.Semantic proximity Read ↗

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