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Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts
Published on: May 11, 2018
SETX gene mutation in a family diagnosed autosomal dominant proximal spinal muscular atrophy
Sabine Rudnik-Schöneborn1, Larissa Arning, Jörg T Epplen
1Institute of Human Genetics, Medical Faculty, RWTH Aachen, Germany. srudnik-schoeneborn@ukaachen.de
Abstract:
Autosomal dominant proximal spinal muscular atrophy (ADSMA) is a rare disorder with unknown gene defects in the majority of families. Here we describe a family where the diagnosis of juvenile and adult onset ADSMA was made in three individuals. Because of retained tendon reflexes an atypical course of juvenile amyotrophic lateral sclerosis (ALS4) was considered. SETX gene sequencing revealed the previously reported heterozygous missense mutation c.1166T
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