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- Title
Intra-familial variation in clinical manifestations and response to ephedrine in siblings with congenital myasthenic syndrome caused by novel COLQ mutations.
- Authors
Wai-Lan Yeung; Ching-Wan Lam; Pak-Cheung Ng
- Abstract
The article presents a study on the management of congenital myasthenic syndrome (CMS) caused by COLQ gene mutations by the use of ephedrine. This was reportedly administered to two Chinese siblings with identical novel heterozygous mutations but different phenotypic expressions, with the results of improved muscle strength and respiratory function in one and no improvement with the other. It is stated that patients with identical genotype within the same family can vary in phenotypic expression.
- Publication
Developmental Medicine & Child Neurology, 2010, Vol 52, Issue 10, pe243
- ISSN
0012-1622
- Publication type
Academic Journal
- DOI
10.1111/j.1469-8749.2010.03663.x