Inflammatory demyelination in a patient with CMT1A

Publisher Website
Google Scholar
Abstract
We report a case of Charcot‐Marie‐Tooth disease (CMT), with identified PMP22 gene duplication (CMT type 1A), and with evidence of an inflammatory demyelinating process superimposed on the course of the chronic genetic disease. Macrophage‐associated demyelination was observed on the peripheral nerve biopsy. This observation supports some experimental data from the literature and shows that there may be a genetic susceptibility to inflammatory demyelinating processes in certain CMT kindreds. Muscle Nerve 28: 373–376, 2003
Funding Information
  • Association Française contre les Myopathies (AFM)