Article
Can symptomatic nmDuchenne carriers benefit from treatment with ataluren? Results of 193-month follow-up.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology - 1 Dec 2021
Dori Amir, Guglieri Michela, Scutifero Marianna, Passamano Luigia, Trabacca Antonio, Politano Luisa
Abstract excerpt
Duchenne's muscular dystrophy (DMD) is an X-linked neuromuscular disorder caused by deletions (75%), duplications (15-20%) and point mutations (5-10%) in the dystrophin gene. Among the latter, stop-codon point mutations are rare. Female carriers of dystrophin gene mutations are usually asymptomatic as they are "protected" by the second X-chromosome, which produces a normal dystrophin protein. However, about 8-10%...
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