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Article

Distal axonopathy in peripheral nerves of PMP22-mutant mice

1 Aug 1999

Abstract excerpt

A partial duplication of chromosome 17 is associated with Charcot-Marie-Tooth disease type 1A (CMT1A), a demyelinating peripheral neuropathy that causes progressive distal muscle atrophy and sensory impairment. Trisomic expression of peripheral myelin protein 22 (PMP22) whose gene is contained within the duplicated region is considered to be responsible for the disease. By using recombinant gene technology in...

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PMID: 10430839
DOI: 10.1093/brain/122.8.1563

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