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Clin Genet. 1994 Mar;45(3):128-34.

The Charcot-Marie-Tooth syndrome: clinical aspects from a population study in South Wales, UK.

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1
Institute of Medical Genetics, University Hospital of Wales College of Medicine, Heath Park, Cardiff, UK.

Abstract

The Charcot-Marie-Tooth (CMT) syndrome comprises a heterogeneous group of disorders affecting the peripheral nerves and anterior horn cells of the spinal cord. They constitute a significant proportion of the burden of disability caused by single gene neurological disorders, with a disease prevalence of 16.7 per 10(5) of the South Wales adult population. The clinical and genetic characteristics of these diseases in the population are described. In those cases identified as type I hereditary motor and sensory neuropathy (HMSN I), we have shown that it is possible to correlate disease severity with age, and that there is no clinical evidence for imprinting, manifest either in age of onset or disease severity.

[Indexed for MEDLINE]

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