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 H MSN I,...

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Veröffentlicht in:	The Lancet (British edition) 1992-05, Vol.339 (8801), p.1081-1082
Hauptverfasser:	Hoogendijk, J.E., Hensels, G.W., Janssen, E.A.M., Valentijn, L.J., Baas, F., de Visser, M., Bolhuis, P.A., Gabreels-Festen, A.A.W.M., Gabreels, F.J.M., de onghe, P., Martin, J.-J., van Broeckhoven, C.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Biological and medical sciences Charcot-Marie-Tooth Disease - genetics Child Chromosome Aberrations - diagnosis Chromosome Disorders Chromosomes, Human, 16-18 Female Genetic screening Genetics Humans Male Medical research Medical sciences Multigene Family - genetics Mutation Neurological disorders Neurology
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