Novel PLEC gene variants causing congenital myasthenic syndrome
- Resource Type
- Authors
- Saila Upadhyayula; Michelle S. Tutmaher; Sumit Verma; Aixa Gonzalez Garcia; Rossana Sanchez Russo
- Source
- MusclenerveREFERENCES. 60(6)
- Subject
- Male
Heterozygote
Physiology
Cellular and Molecular Neuroscience
Physiology (medical)
Medicine
Humans
Child
Gene
Myasthenic Syndromes, Congenital
business.industry
Siblings
Infant
Heterozygote advantage
Congenital myasthenic syndrome
medicine.disease
Child, Preschool
Epidermolysis Bullosa Simplex
Immunology
Mutation (genetic algorithm)
Mutation
Plectin
Female
Neurology (clinical)
Cholinesterase Inhibitors
business
Myasthenic syndromes
Pyridostigmine Bromide
- Language
- ISSN
- 1097-4598