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

DOK7 congenital myasthenic syndrome: case series and review of literature.

BMC neurology - 21 Jun 2024

Ziaadini Bentolhoda, Ghaderi Yazdi Bardyia, Dirandeh Elham, Boostani Reza, Karimi Narges, Panahi Akram, Kariminejad Ariana, Fadaee Mahsa, Ahangari Fatemeh, Nafissi Shahriar

Abstract excerpt

BACKGROUND: Congenital myasthenic syndromes (CMS) are among the most challenging differential diagnoses in the neuromuscular domain, consisting of diverse genotypes and phenotypes. A mutation in the Docking Protein 7 (Dok-7) is a common cause of CMS. DOK7 CMS requires different treatment than other CMS types. Regarding DOK7's special considerations and challenges ahead of neurologists, we describe seven DOK7...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscle Proteins

Share to Mutation

Share to Myasthenic Syndromes, Congenital

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 38907197
DOI: 10.1186/s12883-024-03713-0
PMCID: PMC11191154

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

DOK7 congenital myasthenic syndrome: case series and review of literature.PMID 38907197Read ↗

DOK7 congenital myasthenic syndrome.Semantic proximity Read ↗

Congenital Myasthenic Syndromes in Turkey: Clinical and Molecular Characterization of 16 Cases With Three Novel Mutations.Semantic proximity Read ↗

Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.Semantic proximity Read ↗

The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.Semantic proximity Read ↗

Congenital myasthenic syndromesSemantic proximity Read ↗

Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7.Semantic proximity Read ↗

Clinical and molecular analysis of a novel variant responsive to salbutamol monotherapy during COVID-19 outbreak related to congenital and late-onset of myasthenic syndrome in large kindredSemantic proximity Read ↗

Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review.Semantic proximity Read ↗

Congenital Myasthenic Syndrome: Long-Term Outcomes up to 60 Years, Molecular Characterization, and Eight Novel Variants.Semantic proximity Read ↗

Genotypic and phenotypic spectrum of congenital myasthenic syndrome: Insights from Southeastern Türkiye.Semantic proximity Read ↗

DOK7 limb-girdle myasthenic syndrome mimicking congenital muscular dystrophy.Semantic proximity Read ↗

Congenital stridor with feeding difficulty as a presenting symptom of Dok7 congenital myasthenic syndrome.Semantic proximity Read ↗

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