Charcot-Marie-Tooth disease with giant axons: a clinicopathological and genetic entity

LUS, Giacomo
NELIS E
JORDANOVA A
LOFGREN A
CAVALLARO T
AMMENDOLA A
MELONE, Mariarosa Anna Beatrice
RIZZUTO N
TIMMERMAN V
COTRUFO R
DE JONGHE P.

Publication date

January 2003

Abstract

The authors report an Italian family with autosomal-dominant Charcot-Marie-Tooth disease (CMT) in which there were giant axons in the sural nerve biopsy. Linkage to the known CMT2 loci (CMT2A, CMT2B, CMT2D, CMT2F) and mutations in the known CMT2 genes (Cx32, MPZ, NEFL), GAN, NEFM, and CMT1A duplication/HNPP deletion were excluded. This family with CMT and giant axons has a pathologic and genetic entity distinct from classic CMT