Differing disease phenotypes of Duchenne muscular dystrophy and Moyamoya disease in female siblings of a Korean family.

Published in: Molecular genetics & genomic medicine (2019)

This report illustrates the difficulty that might be encountered in the interpretation of complex clinical manifestations when different genetic defects affecting neuromuscular and vascular diseases coexist.

Keyphrases

duchenne muscular dystrophy
gene expression
middle cerebral artery
muscular dystrophy
copy number