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Article

Congenital stridor with feeding difficulty as a presenting symptom of Dok7 congenital myasthenic syndrome.

International journal of pediatric otorhinolaryngology - 1 Sept 2010

Jephson Chris G, Mills Nikki A, Pitt Matthew C, Beeson David, Aloysius Annie, Muntoni Francesco, Robb Stephanie A, Bailey C Martin

Abstract excerpt

OBJECTIVE: The congenital myasthenic syndromes (CMS) are a group of genetic disorders of neuromuscular transmission causing fatigable weakness. Symptoms may be present from birth, but diagnosis is often delayed for several years, notably in post-synaptic CMS due to mutations in the DOK7 gene. Rec...

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Source

Identifiers

PMID: 20554332
DOI: 10.1016/j.ijporl.2010.05.022

Genes

DOK7
VCP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20554332-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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