A novel homozygous variant of RYR1 p.Ala3072Asp in a neonate with dusty core disease: A new entity with clinicopathological implications

摘要

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 harbor RYR1 mutations. I hereby describe a novel homozygous variant of RYR1 p.AIa3072Asp clinicopathologically compatible with DuCD. To the best of my knowledge, this is the first documented case of DuCD from India.