Genetic defects are common in myopathies with tubular aggregates.

Qiang GangConceição BettencourtStefen BradyJanice L HoltonEstelle G HealyJohn McConvillePatrick J MorrisonMichela RipoloneRaffaella ViolanoMonica SciaccoMaurizio MoggioMarina MoraRenato MantegazzaSimona ZanottiZhaoxia WangYun YuanWei-Wei LiuDavid BeesonMichael HannaHenry Houlden

Published in: Annals of clinical and translational neurology (2021)

This study expands the phenotypic and genotypic spectrums of myopathies with TAs. Our findings further confirm previous hypothesis that genes related with calcium signalling pathway and N-linked glycosylation pathway are the main genetic causes of myopathies with TAs.

Keyphrases

genome wide
copy number
dna methylation
gene expression
transcription factor
endothelial cells
genome wide analysis