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

Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes.

Journal of neurology - 1 Jul 2010

Brugnoni Raffaella, Maggi Lorenzo, Canioni Eleonora, Moroni Isabella, Pantaleoni Chiara, D'Arrigo Stefano, Riva Daria, Cornelio Ferdinando, Bernasconi Pia, Mantegazza Renato

Abstract excerpt

Congenital myasthenic syndromes are rare genetic disorders compromising neuromuscular transmission. The defects are mainly mutations in the muscle acetylcholine receptor, or associated proteins rapsyn and Dok-7. We analyzed three unrelated Italian patients with typical clinical features of congen...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Muscle Proteins

Share to Myasthenic Syndromes, Congenital

Share to Receptors, Nicotinic

Share to Young Adult

Source

Identifiers

PMID: 20157724
DOI: 10.1007/s00415-010-5472-0

Genes

CHRNA1
CHRNE
RAPSN

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20157724-2026-09-02.2. 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

Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes.PMID 20157724Read ↗

A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1.Semantic proximity Read ↗

A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome.Semantic proximity Read ↗

Congenital myasthenic syndrome due to homozygous CHRNE mutations: report of patients in Arabia.Semantic proximity Read ↗

Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients.Semantic proximity Read ↗

Further observations in congenital myasthenic syndromes.Semantic proximity Read ↗

A rare c.183_187dupCTCAC mutation of the acetylcholine receptor CHRNE gene in a South Asian female with congenital myasthenic syndrome: a case report.Semantic proximity Read ↗

[Congenital myasthenic syndromes: phenotypic expression and pathophysiological characterisation].Semantic proximity Read ↗

Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients.Semantic proximity Read ↗

Severe congenital myasthenic syndrome associated with novel biallelic mutation of the CHRND gene.Semantic proximity Read ↗

Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon Subunit.Semantic proximity Read ↗

Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations.Semantic proximity Read ↗

Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation.Semantic proximity Read ↗

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