Becker muscular dystrophy caused by exon 2-truncating mutation of DMD
HUMAN GENOME VARIATION(2019)
摘要
Nonsense and frameshift mutations of the dystrophin ( DMD ) gene usually cause severe Duchenne muscular dystrophy (DMD). Interestingly, however, premature stop codons in exons 1 and 2 result in relatively mild Becker muscular dystrophy (BMD). Herein, we report the clinical course of a patient with a very mild phenotype of BMD caused by a frameshift mutation, NM_004006.2: c.40_41del GA/p.(Glu14ArgfsX17), in exon 2 of the DMD gene.
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关键词
Cancer epigenetics,Microbial genetics
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