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.

Details

Title
Becker muscular dystrophy caused by exon 2-truncating mutation of DMD
Author
Ikeda Tetsuhiko 1 ; Fujinaka Hidehiko 2 ; Goto Kiyoe 3 ; Nakajima, Takashi 4 ; Ozawa Tetsuo 5 

1  National Hospital Organization Niigata National Hospital, Department of Neurology, Kashiwazaki, Japan ; Niigata University, Department of Neurology, Brain Research Institute, Niigata, Japan (GRID:grid.260975.f) (ISNI:0000 0001 0671 5144) 
2  National Hospital Organization Niigata National Hospital, Department of Pediatrics, Kashiwazaki, Japan (GRID:grid.260975.f) ; National Hospital Organization Niigata National Hospital, Department of Clinical Research, Kashiwazaki, Japan (GRID:grid.260975.f) 
3  National Hospital Organization Niigata National Hospital, Deprtment of Genetic Counseling, Kashiwazaki, Japan (GRID:grid.260975.f) 
4  National Hospital Organization Niigata National Hospital, Department of Neurology, Kashiwazaki, Japan (GRID:grid.260975.f) 
5  National Hospital Organization Niigata National Hospital, Department of Internal Medicine, Kashiwazaki, Japan (GRID:grid.260975.f) 
Publication year
2019
Publication date
Nov 2019
Publisher
Springer Nature B.V.
e-ISSN
2054345X
Source type
Scholarly Journal
Language of publication
English
DOI
https://doi.org/10.1038/s41439-019-0083-5
ProQuest document ID
2315064686
Copyright
This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.