PMP22 frameshift mutation and hereditary neuropathy with liability to pressure palsies
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Reply from the Authors: We thank Pareyson et al. for their letter from which we learned that the frameshift mutation mentioned in the abstract by Mariman et al.5 was identical to the one reported by us.1 They suggest that this mutation may be associated with a more severe phenotype than that observed in deletion carriers, and that this may be the consequence of a dominant negative effect of the aberrant gene product. This is an intriguing suggestion. To shed more light on this …
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