Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease.

Abstract

Classical Menkes disease is an X-linked recessive neurodegenerative disorder caused by mutations in ATP7A, which is located at Xq13.1-q21. ATP7A encodes a copper-transporting P-type ATPase and plays a critical role in development of the central nervous system. With rare exceptions involving sex chromosome aneuploidy or X-autosome translocations, female… (More)
DOI: 10.1111/j.1399-0004.2010.01451.x

Cite this paper

@article{Desai2011FavorablySX, title={Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease.}, author={V Desai and A Donsante and K J Swoboda and Malte Martensen and J Thompson and Stephen G Kaler}, journal={Clinical genetics}, year={2011}, volume={79 2}, pages={176-82} }