Abstract
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.
Highlights
1234567890():,; 1234567890():,; 1234567890():,; 1234567890():,; The dystrophin (DMD) gene, located at Xp21.2-p21.1, is one of the largest human genes and consists of 79 exons
We report the clinical course of a patient with a two-base deletion mutation of the Duchenne muscular dystrophy (DMD) gene, which causes a frameshift and results in a premature stop codon in exon 2
At the age of 28 years, he was admitted to a university hospital and diagnosed with sporadic Becker muscular dystrophy (BMD) based on his clinical symptoms, serum creatine kinase elevation, and dystrophic changes in his muscle biopsy specimens
Summary
1234567890():,; 1234567890():,; 1234567890():,; 1234567890():,; The dystrophin (DMD) gene, located at Xp21.2-p21.1, is one of the largest human genes and consists of 79 exons. We report the clinical course of a patient with a two-base deletion mutation of the DMD gene, which causes a frameshift and results in a premature stop codon in exon 2. This truncating mutation is expected to terminate the translation of the gene in the N-terminal actin-binding domain and cause the complete absence of muscular dystrophin.
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
