Condition: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
rs137852801 in
CHRNA1 gene and
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
PMID 7619526 1995 Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity.
PMID 9158151 1997 Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome.
PMID 6287911 1982 A newly recognized congenital myasthenic syndrome attributed to a prolonged open time of the acetylcholine-induced ion channel.
PMID 18252226 2008 Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.
PMID 27748205 2017 Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation.
PMID 24121633 2013 HnRNP L and hnRNP LL antagonistically modulate PTB-mediated splicing suppression of CHRNA1 pre-mRNA.
rs121909505 in
CHRND gene and
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
PMID 18252226 2008 Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.
rs121912670 in
CHRNG gene and
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
PMID 16826531 2006 Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.
PMID 16826520 2006 Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit.