[Mutation analysis and prenatal diagnosis for a case of spinal muscular atrophy with respiratory distress type 1].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics（2017）
Abstract
The missense mutation c.1060G>A and frameshift mutation c.2356delG were probably causative for the disease. Analysis of the IGHMBP2 gene has provided an important clue for the etiology and prenatal diagnosis of SMARD1.
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Key words
Spinal muscular atrophy with respiratory distress type 1,Immunoglobulin μ-binding protein 2,Gene mutation,Prenatal diagnosis
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