Strokelike Episodes in PMM-2 Carriers Differ from Those in Mitochondrial Disorders.

Abstract

We read with interest the article by Sreedevi et al who reported the case of a 12-year-old girl with a congenital disorder of glycosylation (CDG) due to the variant c.710C > T in the phosphomannomutase-2 ( PMM2 ) gene. 1 The patient manifested phenotypically with developmental delay, cog-nitive impairment, generalized hypotonia