Hui Liang

INPP5K-related muscular dystrophy caused by a novel synonymous splicing variant in a Chinese patient: a case report.

This first report of a Chinese patient with INPP5K-related muscular dystrophy broadens both the genetic and clinical spectrum of the disorder and identifies the first disease-causing synonymous variant and a novel hypomorphic missense variant, the combination of which explains the attenuated phenotype lacking intellectual disability.