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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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Description scientific article published on 25 May 2017
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author: Jessica X. Chong  Craig M. McDonald  Deborah A Nickerson  Ricardo A Maselli  University of Washington Center for Mendelian Genomics 

Publication date May 25, 2017
Language English
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