Phenotypes of SMA patients retaining SMN1 with intragenic mutation

• Main Authors: Wijaya, Y.O.S., Ar Rohmah, M., Niba, E.T.E., Morisada, N., Noguchi, Y., Hidaka, Y., Ozasa, S., Inoue, T., Shimazu, T., Takahashi, Y., Tozawa, T., Chiyonobu, T., Shiroshita, T., Yokoyama, A., Okamoto, K., Awano, H., Takeshima, Y., Saito, T., Saito, K., Nishio, H., Shinohara, M.
• Format: Article PeerReviewed
• Published: 2021
• Subjects: Neurosciences
• Online Access: https://repository.ugm.ac.id/279108/; https://www.scopus.com/inward/record.uri?eid=2-s2.0-85104783455&doi=10.1016%2fj.braindev.2021.03.006&partnerID=40&md5=3614e7990714fd782ab010078c61646b
• Institution: Universitas Gadjah Mada

Background: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by homozygous deletion or intragenic mutation of the SMN1 gene. It is well-known that high copy number of its homologous gene, SMN2, modifies the phenotype of SMN1-deleted patients. However, in the pati...