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Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission.

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Bibliographic Details
Title: Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission.
Authors: Maselli, Ricardo A.1, ramaselli@ucdavis.edu, Arredondo, Juan1, Vázquez, Jessica1, Chong, Jessica X.2, Bamshad, Michael J.2,3,4, Nickerson, Deborah A.3, Lara, Marian1, Ng, Fiona1, Lo, Victoria L.1, Pytel, Peter5, McDonald, Craig M.6
Source: American Journal of Medical Genetics. Part A; Aug2017, Vol. 173 Issue 8, p2240-2245, 6p
Database: Applied Science & Technology Source
Description
ISSN:15524825
DOI:10.1002/ajmg.a.38291