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Title of Journal: J Neurol

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Abbravation: Journal of Neurology

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Steinkopff-Verlag

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DOI

10.1007/s00484-015-1098-3

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1432-1459

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Highly skewed inactivation of the wildtype Xchro

Authors: C Paradas F Solano F Carrillo C Fernández J Bautista E Pintado M Lucas
Publish Date: 2008/05/02
Volume: 255, Issue: 6, Pages: 853-
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Abstract

We examined families with a history of spinal and bulbar muscular atrophy SBMA and found that six out of eight female carriers had a skewed inactivation of the wildtype chromosome Under these genetic conditions disease manifestations should be expected and therefore we sought neurological and other symptoms of subclinical SBMA We did not find either clinical symptoms or electrophysiological signs of mutated AR gene in female carriers despite skewed methylation of the wildtype allele These findings suggest that skewed methylation of AR genes are not necessarily associated to clinical manifestations in female carriers of the expanded SBMA allele

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