Skewed X-chromosome inactivation plays a crucial role in the onset of symptoms in carriers of Becker muscular dystrophy.

Emanuela ViggianoEsther PicilloManuela ErgoliAlessandra CirilloStefania Del GaudioLuisa Politano

Published in: The journal of gene medicine (2017)

The data obtained in the present study suggest that the onset of symptoms in BMD carriers is related to a skewed XCI, as observed in DMD carriers. Furthermore, they showed no concordance in the XCI pattern inheritance.

Keyphrases

muscular dystrophy
duchenne muscular dystrophy
sleep quality
mitochondrial dna
electronic health record
copy number
big data
dna methylation
artificial intelligence