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Novel PLEC gene variants causing congenital myasthenic syndrome.
Gonzalez Garcia A, Tutmaher MS, Upadhyayula SR, Sanchez Russo R, Verma S. Novel PLEC gene variants causing congenital myasthenic syndrome. Muscle Nerve. 2019 12; 60(6):E40-E43.
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PubMed
subject areas
Child
Child, Preschool
Cholinesterase Inhibitors
Epidermolysis Bullosa Simplex
Female
Heterozygote
Humans
Infant
Male
Mutation
Myasthenic Syndromes, Congenital
Plectin
Pyridostigmine Bromide
Siblings
authors with profiles
Aixa Gonzalez Garcia
Novel PLEC gene variants causing congenital myasthenic syndrome.