Charcot-Marie-Tooth disease (CMT) is a genetically and clinically heterogeneous 
hereditary motor and sensory neuropathy signified by a distal symmetric 
polyneuropathy. The most frequent subtype is type 1A (CMT1A) caused by 
duplication in chromosome 17p12 that includes PMP22. This study reports a woman 
with a family history of CMT1A due to PMP22 duplication. However, she presented 
with a more severe phenotype than her sibling or ancestors and was found to have 
a PMP22 triplication instead of the duplication. This was caused by de novo 
mutation on her affected mother's duplication chromosome. Her lower limb 
magnetic resonance imaging revealed severe diffused atrophy and fatty 
replacement. However, her affected sister with typical PMP22 duplication showed 
almost intact lower limb. Triplication patient's median motor nerve conduction 
velocity was far lower compared with her sister. Her onset age was faster (8 
years) than her sister (42 years). CMT1A triplication might be generated by a 
female-specific chromosomal rearrangement mechanism that is different from the 
frequent paternal-originated CMT1A duplication. It also suggests that the wide 
phenotypic variation of CMT1A might be partly caused by unstable genomic 
rearrangement, including PMP22 triplication.