Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome.

Abstract

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… (More)
DOI: 10.1212/WNL.0000000000003720

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