Open AccessFamilial Autonomic Ganglionopathy Caused by Rare CHRNA3 Genetic Variants
Author(s) -
Cyndya A. Shibao,
Karen M. Joos,
John A. Phillips,
Joy D. Cogan,
John H. Newman,
Rizwan Hamid,
Jens Meiler,
John A. Capra,
Jonathan H. Sheehan,
Francesco Vetrini,
Yaping Yang,
Bonnie K. Black,
André Diedrich,
David Roberston,
Italo Biaggioni
Publication year - 2021
Publication title -
neurology
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 2.91
H-Index - 364
eISSN - 1526-632X
pISSN - 0028-3878
DOI - 10.1212/wnl.0000000000012143
Subject(s) - frameshift mutation , nicotinic acetylcholine receptor , nicotinic agonist , pure autonomic failure , genetics , compound heterozygosity , exome sequencing , medicine , orthostatic vital signs , biology , endocrinology , gene , receptor , allele , mutation , blood pressure
To determine the molecular basis of a new monogenetic recessive disorder that results in familial autonomic ganglionopathy with diffuse autonomic failure.