Becker muscular dystrophy caused by exon 2-truncating mutation of DMD

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 v...

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Detalles Bibliográficos
Autores principales: Ikeda, Tetsuhiko, Fujinaka, Hidehiko, Goto, Kiyoe, Nakajima, Takashi, Ozawa, Tetsuo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6859157/
https://www.ncbi.nlm.nih.gov/pubmed/31754439
http://dx.doi.org/10.1038/s41439-019-0083-5
Descripción
Sumario: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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