Charcot-Marie-Tooth 1A: heterozygous T118M mutation over a CMT1A duplication has no influence on the phenotype

Abstrakt

We identified an unusual family, which demostrates segregation of two different mutations involving the same gene: a previously reported point mutation in the PMP22 gene and a CMT1A duplication. Both mutations were confirmed by two independent detection techniques.

The speculation that T118M over the duplication could make the phenotype milder by means of altering a third, supernummerary copy of PMP22 could not be confirmed.

Klíčová slova

• Charcot-Marie-Tooth
• T118M mutation
• CMT1A duplication