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Article

Identification of two novel SMN1 point mutations associated with a very severe SMA-I phenotype.

European journal of medical genetics - 1 Sept 2020

Zhao Xuechao, Wang Yanhong, Mei Shiyue, Chen Chen, Liu Lina, Wang Conghui, Zhao Ganye, Kong Xiangdong

Abstract excerpt

Spinal muscular atrophy (SMA) is a common autosomal recessive genetic disorder characterized by degeneration of motor neurons and weakness and muscle atrophy. Approximately 95% of SMA patients are caused by homozygous deletions of the SMN1 gene, whereas the remaining 5% of patients harbor compound heterozygous mutations such as an SMN1 deletion allele and an intragenic mutation (insertions, deletions, or point...

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Identifiers

PMID: 32659294
DOI: 10.1016/j.ejmg.2020.104006

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