A Unique Mutation in Connexin32 Associated with Severe, Early Onset CMTX in a Heterozygous Female

Affiliation

• ¹ Department of Neurology, University of Pennsylvania Medical Center, Philadelphia, Pennsylvania 19104, USADepartment of Neurology, Emory University School of Medicine, Atlanta, Georgia 30322, USANeurogenetics Branch, National Institute of Neurological Disease and Stroke, National Institutes of Health, Bethesda, Maryland 20896, USA.