期刊
PEDIATRIC CLINICS OF NORTH AMERICA
卷 62, 期 3, 页码 723-+出版社
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1016/j.pcl.2015.03.008
关键词
Duchenne; Becker; Muscular dystrophy; DMD gene; Dystrophin; Gene therapy; Exon skipping; Nonsense suppression
类别
资金
- National Institutes of Health [NS085238]
- Association Francaise contre les Myopathies
- CureDuchenne foundation
- Prosensa Therapeutics
- Sarepta Therapeutics
- PTC Therapeutics
- Akashi Therapeutics
Mutations in the DMD gene result in Duchenne or Becker muscular dystrophy due to absent or altered expression of the dystrophin protein. The more severe Duchenne muscular dystrophy typically presents around ages 2 to 5 with gait disturbance, and historically has led to the loss of ambulation by age 12. It is important for the practicing pediatrician, however, to be aware of other presenting signs, such as delayed motor or cognitive milestones, or elevated serum transaminases. Becker muscular dystrophy is milder, often presenting after age 5, with ambulation frequently preserved past 20 years and sometimes into late decades.
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