Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases.
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DOI: 10.1016/j.nrl.2015.12.009
Abstract: INTRODUCTION Duchenne muscular dystrophy (DMD) is a severe X-linked recessive neuromuscular disease that affects one in 3500 live-born males. The total absence of dystrophin observed in DMD patients is generally caused by mutations that disrupt… read more here.
Keywords: 284 cases; mutational spectrum; muscular dystrophy; duchenne muscular ... See more keywords