Novel PLEC gene variants causing congenital myasthenic syndrome

Muscle Nerve. 2019 Dec;60(6):E40-E43. doi: 10.1002/mus.26703. Epub 2019 Oct 23.

Authors

Aixa Gonzalez Garcia¹, Michelle S Tutmaher², Saila R Upadhyayula², Rossana Sanchez Russo¹, Sumit Verma²

Affiliations

¹ Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia.
² Department of Pediatrics and Neurology, Emory University School of Medicine, Atlanta, Georgia.

PMID: 31509265
DOI: 10.1002/mus.26703

No abstract available

Publication types

Case Reports

MeSH terms

Child
Child, Preschool
Cholinesterase Inhibitors / therapeutic use
Epidermolysis Bullosa Simplex / complications
Epidermolysis Bullosa Simplex / genetics*
Female
Heterozygote
Humans
Infant
Male
Mutation
Myasthenic Syndromes, Congenital / complications
Myasthenic Syndromes, Congenital / drug therapy
Myasthenic Syndromes, Congenital / genetics*
Plectin / genetics*
Pyridostigmine Bromide / therapeutic use
Siblings

Substances

Cholinesterase Inhibitors
PLEC protein, human
Plectin
Pyridostigmine Bromide