Giant axonal neuropathy is a rare autosomal recessive disorder, which typically 
involves both central and peripheral nervous system. Yet the 
phenotypic-genotypic correlation remains obscure. We report a novel compound 
heterozygous mutation with the c. 805C>T in exon 4(Arg545His missense mutation) 
and the c. 1634G>A in exon 11(Arg269Trp missense mutation) in an 11-year-old 
Chinese giant axonal neuropathy case. This patient had an atypical giant axonal 
neuropathy phenotype rather similar to Charcot-Marie-Tooth disease, without 
tightly curled hair and mental retardation. The patient had a slowly progressive 
sensory motor neuropathy since age 3 years, and she also had nystagmus, feet 
deformities, scoliosis, and cerebellar tonsillar protrusion. 
Electrophysiological studies indicated a predominantly axonal sensory-motor 
neuropathy. The diagnosis was confirmed by sural nerve biopsy and direct 
sequencing of all the 11 gigaxonin exons. The proband's parents are 
heterozygotes of the disease without symptoms. Our findings extend the number of 
gigaxonin mutations that cause giant axonal neuropathy.