Article
Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases.
Neurologia (Barcelona, Spain) - 1 Jan 2000
Vieitez I, Gallano P, González-Quereda L, Borrego S, Marcos I, Millán J M, Jairo T, Prior C, Molano J, Trujillo-Tiebas M J, Gallego-Merlo J, García-Barcina M, Fenollar M, Navarro C
Abstract excerpt
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 the reading frame of the DMD gene, and about 80% of cases harbour deletions or duplications of one or more exons. METHODS: We reviewed 284 cases of males with a genetic...
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