Article
Phenotypes of SMA patients retaining SMN1 with intragenic mutation.
Brain & development - 1 Aug 2021
Wijaya Yogik Onky Silvana, Ar Rohmah Mawaddah, Niba Emma Tabe Eko, Morisada Naoya, Noguchi Yoriko, Hidaka Yasufumi, Ozasa Shiro, Inoue Takeshi, Shimazu Tomoyuki, Takahashi Yuya, Tozawa Takenori, Chiyonobu Tomohiro, Inoue Takushi, Shiroshita Tomoyoshi, Yokoyama Atsushi, Okamoto Kentaro, Awano Hiroyuki, Takeshima Yasuhiro, Saito Toshio, Saito Kayoko, Nishio Hisahide, Shinohara Masakazu
Abstract excerpt
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 patients with intragenic SMN1 mutation, the relationship between phenotype and SMN2 copy number remains unclear....
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