Phenotypes of SMA patients retaining SMN1 with intragenic mutation

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...

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Bibliographic Details
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
Published:	2021
Subjects:	Neurosciences

Phenotypes of SMA patients retaining SMN1 with intragenic mutation

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