Journal
NEUROLOGIC CLINICS
Volume 32, Issue 3, Pages 671-+Publisher
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1016/j.ncl.2014.05.002
Keywords
Duchenne muscular dystrophy; Becker muscular dystrophy; Dystrophin; Exon skipping
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The dystrophinopathies Duchenne and Becker muscular dystrophies (DMD and BMD) represent the most common inherited disorders of muscle. Improvements in cardiac care, attention to respiratory function, and judicious use of spinal correction surgery have led to increased survival in the DMD population. Meanwhile, advances in molecular therapeutics have led to promising therapies that are in or are entering clinical trials. An understanding of the dystrophinopathies, and recent advances in their molecular diagnosis and treatment, is of benefit to practicing neurologists.
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