{Reference Type}: Case Reports
{Title}: A Novel De Novo Variant in DYNC1H1 Causes Spinal Muscular Atrophy Lower Extremity Predominant in Identical Twins: A Case Report.
{Author}: Derksen A;Mirchi A;Tran LT;Cao-Lei L;Oskoui M;Srour M;Poulin C; ;Bernard G;
{Journal}: Child Neurol Open
{Volume}: 8
{Issue}: 0
{Year}: Jan-Dec 2021
暂无{DOI}: 10.1177/2329048X211027438
{Abstract}: 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.