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

Congenital Myasthenic Syndrome Caused by DOK7 Mutation in a Quinquagenarian Male with Calf Hypertrophy.

Journal of clinical neuromuscular disease - 1 Sept 2023

Gomathy Saranya B, Das Animesh, Garg Ajay, Srivastava Achal Kumar

Abstract excerpt

ABSTRACT: Congenital myasthenic syndromes (CMS) are relatively rare neurologic syndromes of defective neuromuscular transmission that stem from mutations in various proteins at the myoneural junction. Classically, the patients present within the first 2 years of life; however, the disease can also have onset in the second or third decade of life. The disease characteristically involves the skeletal muscles and...

Read the complete abstract on PubMed

Topics

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

Share to Genetic Testing
Share to Hypertrophy
Share to Muscle Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscle, Skeletal

Share to Mutation

Share to Myasthenic Syndromes, Congenital

Source

Identifiers

PMID: 37611271
DOI: 10.1097/CND.0000000000000448

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

Congenital Myasthenic Syndrome Caused by DOK7 Mutation in a Quinquagenarian Male with Calf Hypertrophy.PMID 37611271Read ↗

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

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

DOK7 congenital myasthenic syndrome.Semantic proximity Read ↗

Synaptic dysfunction in congenital myasthenic syndromes.Semantic proximity Read ↗

Congenital myasthenic syndromesSemantic proximity Read ↗

Congenital Myasthenic Syndrome From a Single Center: Phenotypic and Genotypic features.Semantic proximity Read ↗

Congenital myasthenic syndrome and minicore-like myopathy with DOK7 mutation.Semantic proximity Read ↗

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

A late-onset congenital myasthenic syndrome due to a heterozygous DOK7 mutation.Semantic proximity Read ↗

Congenital myasthenic syndromes: an update.Semantic proximity Read ↗

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

Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up.Semantic proximity Read ↗

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