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

Variable phenotypes associated with mutations in DOK7.

Muscle & nerve - 1 Apr 2008

Anderson Jennifer A, Ng Jarae J, Bowe Constance, McDonald Craig, Richman David P, Wollmann Robert L, Maselli Ricardo A

Abstract excerpt

Many patients with the limb-girdle variant of congenital myasthenic syndrome (CMS) possess mutations in the human Dok-7 gene (DOK7). We identified six unrelated CMS patients with DOK7 mutations. Two patients, one mildly and the other moderately affected, were homozygous for the previously described 1263insC mutation. The common 1124_1127dupTGCC mutation was detected in the other four patients, whose clinical...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Biopsy
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Evoked Potentials, Motor

Share to Haplotypes

Share to Muscle Proteins

Share to Muscle, Skeletal

Share to Myasthenic Syndromes, Congenital

Source

Identifiers

PMID: 18161030
DOI: 10.1002/mus.20944

Genes

DOK7

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

Variable phenotypes associated with mutations in DOK7.PMID 18161030Read ↗

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

DOK7 congenital myasthenic syndrome: case series and review of literature.Semantic proximity Read ↗

Clinical features of the DOK7 neuromuscular junction synaptopathy.Semantic proximity Read ↗

Congenital myasthenic syndrome due to DOK7 mutation in a cohort of patients with 'unexplained' limb-girdle muscular weakness.Semantic proximity Read ↗

Synaptic dysfunction in congenital myasthenic syndromes.Semantic proximity Read ↗

DOK7 congenital myasthenic syndrome.Semantic proximity Read ↗

Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients.Semantic proximity Read ↗

DOK7 mutations presenting as a proximal myopathy in French Canadians.Semantic proximity Read ↗

Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7.Semantic proximity Read ↗

Congenital Myasthenic Syndrome Caused by DOK7 Mutation in a Quinquagenarian Male with Calf Hypertrophy.Semantic proximity Read ↗

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