We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
Becker muscular dystrophy caused by exon 2-truncating mutation of DMD.
- Authors
Ikeda, Tetsuhiko; Fujinaka, Hidehiko; Goto, Kiyoe; Nakajima, Takashi; Ozawa, Tetsuo
- 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.
- Subjects
BECKER muscular dystrophy; DYSTROPHIN; EXONS (Genetics); FRAMESHIFT mutation; DUCHENNE muscular dystrophy; STOP codons
- Publication
Human Genome Variation, 2019, Vol 6, Issue 1, pN.PAG
- ISSN
2054-345X
- Publication type
Article
- DOI
10.1038/s41439-019-0083-5