%0 Case Reports
%T A Novel De Novo Variant in DYNC1H1 Causes Spinal Muscular Atrophy Lower Extremity Predominant in Identical Twins: A Case Report.
%A Derksen A
%A Mirchi A
%A Tran LT
%A Cao-Lei L
%A Oskoui M
%A Srour M
%A Poulin C
%A  
%A Bernard G
%J Child Neurol Open
%V 8
%N 0
%D Jan-Dec 2021
%M 34368388
暂无%R 10.1177/2329048X211027438
%X Mutations in DYNC1H1 have been shown to cause spinal muscular atrophy lower extremity predominant type 1 (SMALED1), an autosomal dominant genetic neuromuscular disorder characterized by degeneration of spinal cord motor neurons resulting in muscle weakness. Here, we describe monozygotic twins, one with a more severe upper motor neuron phenotype as a result of a suspected perinatal hypoxic-ischemic event and the other presenting a typical lower motor neuron phenotype. Using exome sequencing, we identified the novel de novo variant c.752G>T; p.Arg251Leu in DYNC1H1. We thereby add this variant to the growing list of mutations in DYNC1H1 that cause SMALED1.