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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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De-novo mutation in hereditary motor and sensory neuropathy type I.

Isolated cases of hereditary motor and sensory neuropathy type I (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.[1]

References

  1. De-novo mutation in hereditary motor and sensory neuropathy type I. Hoogendijk, J.E., Hensels, G.W., Gabreëls-Festen, A.A., Gabreëls, F.J., Janssen, E.A., de Jonghe, P., Martin, J.J., van Broeckhoven, C., Valentijn, L.J., Baas, F. Lancet (1992) [Pubmed]
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