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

Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome.

Journal of medical genetics - 1 Mar 2009

Maselli R A, Ng J J, Anderson J A, Cagney O, Arredondo J, Williams C, Wessel H B, Abdel-Hamid H, Wollmann R L

Abstract excerpt

BACKGROUND: We describe a severe form of congenital myasthenic syndrome (CMS) associated with congenital nephrosis and ocular malformations caused by two truncating mutations in the gene encoding the laminin beta2 subunit (LAMB2). METHODS AND RESULTS: Mutational analysis in the affected patient,...

Read the complete abstract on PubMed

Topics

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

Share to DNA Mutational Analysis
Share to Eye Diseases, Hereditary
Share to Laminin

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Myasthenia Gravis and Thymoma

Share to Myasthenic Syndromes, Congenital

Share to Neuromuscular Junction

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 19251977
DOI: 10.1136/jmg.2008.063693
PMCID: PMC2643050

Genes

LAMB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19251977-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome.PMID 19251977Read ↗

Congenital myasthenic syndromes.Semantic proximity Read ↗

Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission.Semantic proximity Read ↗

Congenital myasthenic syndromes: increasingly complex.Semantic proximity Read ↗

The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes.Semantic proximity Read ↗

Congenital myasthenic syndromes: A diverse array of molecular targets.Semantic proximity Read ↗

Congenital myasthenic syndromes and the neuromuscular junction.Semantic proximity Read ↗

Congenital myasthenic syndromes in 2012.Semantic proximity Read ↗

Presynaptic Congenital Myasthenic Syndromes: Understanding Clinical Phenotypes through In vivo Models.Semantic proximity Read ↗

Congenital myasthenic syndromes: recent advances.Semantic proximity Read ↗

Synaptic dysfunction in congenital myasthenic syndromes.Semantic proximity Read ↗

Novel congenital myasthenic syndromes associated with defects in quantal release.Semantic proximity Read ↗

Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment.Semantic proximity Read ↗

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