A novel homozygous variant of RYR1 p.Ala3072Asp in a neonate with dusty core disease: A new entity with clinicopathological implications
Sign Up to like & getrecommendations! Published in 2020 at "Neuropathology"
DOI: 10.1111/neup.12648
Abstract: Dusty core disease (DuCD) is a recently described form of congenital myopathy with clinicopathological implications. The presence of “dusty core fibers” is the defining myopathological feature of DuCD. Most cases have a recessive inheritance and… read more here.
Keywords: novel homozygous; core disease; ryr1; dusty core ... See more keywords