title: A novel DYNC1H1 mutation causing spinal muscular atrophy with lower extremity predominance.
abstract: Recent studies have identified mutations in the dynein heavy chain gene (DYNC1H1), which lead to 2 closely related human motor neuropathies: a dominant spinal muscular atrophy with lower extremity predominance (SMALED) and axonal Charcot-Marie-Tooth (CMT) disease.(1,2) We describe the identification of a novel mutation (p.G807S) in DYNC1H1 as the cause of SMALED.
authors.affiliation: Department of Neurology (Q.N., X.W., M.S., Q.J.), The People's Hospital of Jiangsu Province, Nanjing, China; and Department of Neurology (Q.J.), The First Affiliated Hospital, Nanjing Medical University, Nanjing, China.
authors.forename: Qi
authors.initials: Q
authors.lastname: Niu
authors.affiliation: Department of Neurology (Q.N., X.W., M.S., Q.J.), The People's Hospital of Jiangsu Province, Nanjing, China; and Department of Neurology (Q.J.), The First Affiliated Hospital, Nanjing Medical University, Nanjing, China.
authors.forename: Xingxia
authors.initials: X
authors.lastname: Wang
authors.affiliation: Department of Neurology (Q.N., X.W., M.S., Q.J.), The People's Hospital of Jiangsu Province, Nanjing, China; and Department of Neurology (Q.J.), The First Affiliated Hospital, Nanjing Medical University, Nanjing, China.
authors.forename: Mingchao
authors.initials: M
authors.lastname: Shi
authors.affiliation: Department of Neurology (Q.N., X.W., M.S., Q.J.), The People's Hospital of Jiangsu Province, Nanjing, China; and Department of Neurology (Q.J.), The First Affiliated Hospital, Nanjing Medical University, Nanjing, China.
authors.forename: Qingwen
authors.initials: Q
authors.lastname: Jin