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Article

Intra-familial variation in clinical manifestations and response to ephedrine in siblings with congenital myasthenic syndrome caused by novel COLQ mutations.

Developmental medicine and child neurology - 1 Oct 2010

Yeung Wai-Lan, Lam Ching-Wan, Ng Pak-Cheung

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Source

Identifiers

PMID: 20370815
DOI: 10.1111/j.1469-8749.2010.03663.x

Genes

COLQ

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Intra-familial variation in clinical manifestations and response to ephedrine in siblings with congenital myasthenic syndrome caused by novel COLQ mutations.PMID 20370815Read ↗

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Recurrent COLQ mutation in congenital myasthenic syndrome.Semantic proximity Read ↗

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

First characterization of congenital myasthenic syndrome type 5 in North Africa.Semantic proximity Read ↗

COLQ-Related Congenital Myasthenic Syndrome in a Child from Western India.Semantic proximity Read ↗

First Characterization of Congenital Myasthenic Syndrome Type 5 in North AfricaSemantic proximity Read ↗

Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations.Semantic proximity Read ↗

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