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Isolated cases of hereditary motor and sensory neuropathy type 1(HMSN I, Charcot-Marie-Tooth disease type 1)have been thought to be most frequently autosomal recessive.We have found that a recently discovered duplication in chromosome 17,responsible for most cases of autosomal dominant HMSN I, is present as a de-novo mutation in 9 out of 10 sporadic patients.This finding has important implications for genetic counselling of isolated patients with HMSN I. |
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