A Novel MPZ Gene Mutation in Exon 2 Causing Late-Onset Demyelinating Charcot-Marie-Tooth Disease
Journal of Clinical Neuromuscular Disease, 06/07/2012
Chavada G et al. – The authors subsequently identified another affected member of the same family with the same genotype leading to the correct diagnosis. Both the affected individuals had an 8–base pair deletion, c.160_167delTCCCGGGT in MPZ exon 2.