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Dev Med Child Neurol. 2010 Oct;52(10):e243-4. doi: 10.1111/j.1469-8749.2010.03663.x. Epub 2010 Mar 29.

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

PMID:
20370815
[PubMed - indexed for MEDLINE]
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