Condition: Familial infantile myasthenia
rs121912815 in
CHAT gene and
Familial infantile myasthenia
PMID 12756141 2003 Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation.
PMID 11172068 2001 Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans.
PMID 21786365 2011 Functional consequences and structural interpretation of mutations of human choline acetyltransferase.
PMID 28497657 2017 A rapid gene sequencing panel strategy to facilitate precision neonatal medicine.
PMID 26080897 2015 Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype Correlations.