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Article

Familial study of spinal muscular atrophy carriers with SMN1 (2+0) genotype.

Yi chuan = Hereditas - 16 Feb 2021

Yanyan Cao, Miaomiao Cheng, Fang Song, Yujin Qu, Jinli Bai, Hong Wang

Abstract excerpt

Spinal muscular atrophy (SMA) is a common childhood neuromuscular disease inherited in an autosomal recessive pattern. The majority of SMA patients have a homozygous deletion of survival motor neuron 1 (SMN1) gene. As a special SMA carrier, the (2+0) genotype ofSMN1 poses a great challenge for carrier screening and family genetic counseling. A previous study showed that polymorphisms of g.27134 T>G and...

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PMID: 33724218
DOI: 10.16288/j.yczz.20-319

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