Axonal Neuropathy, Microcephaly and VRK1 Mutations

Abstract

Investigators from Baylor College of Medicine, Texas Children's Hospital, Houston, TX; Kennedy Krieger Institute, Baltimore, MD; and University of Minnesota, MN, report 3 patients from 2 unrelated families with a complex neuropathy phenotype characterized by axonal sensorimotor neuropathy, severe nonprogressive microcephaly and cerebral dysgenesis

Keywords

• complex neuropathy phenotype
• nonprogressive microcephaly
• compound heterozygous