Article
A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.
European journal of human genetics : EJHG - 1 Apr 2014
de Brouwer Arjan P M, Nabuurs Sander B, Verhaart Ingrid E C, Oudakker Astrid R, Hordijk Roel, Yntema Helger G, Hordijk-Hos Jannet M, Voesenek Krysta, de Vries Bert B A, van Essen Ton, Chen Wei, Hu Hao, Chelly Jamel, den Dunnen Johan T, Kalscheuer Vera M, Aartsma-Rus Annemieke M, Hamel Ben C J, van Bokhoven Hans, Kleefstra Tjitske
Abstract excerpt
We have identified a deletion of 3 base pairs in the dystrophin gene (DMD), c.9711_9713del, in a family with nonspecific X-linked intellectual disability (ID) by sequencing of the exons of 86 known X-linked ID genes. This in-frame deletion results in the deletion of a single-amino-acid residue, L...
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