Article
Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome.
Neurology - 14 Mar 2017
Aran Adi, Segel Reeval, Kaneshige Kota, Gulsuner Suleyman, Renbaum Paul, Oliphant Scott, Meirson Tomer, Weinberg-Shukron Ariella, Hershkovitz Yair, Zeligson Sharon, Lee Ming K, Samson Abraham O, Parsons Stanley M, King Mary-Claire, Levy-Lahad Ephrat, Walsh Tom
Abstract excerpt
OBJECTIVE: To identify the genetic basis of a recessive congenital neurologic syndrome characterized by severe hypotonia, arthrogryposis, and respiratory failure. METHODS: Identification of the responsible gene by exome sequencing and assessment of the effect of the mutation on protein stability in transfected rat neuronal-like PC12A123.7 cells. RESULTS: Two brothers from a nonconsanguineous Yemeni Jewish family...
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