De-novo mutation in hereditary motor and sensory neuropathy type I
1992; Elsevier BV; Volume: 339; Issue: 8801 Linguagem: Inglês
10.1016/0140-6736(92)90668-s
ISSN1474-547X
AutoresJessica E. Hoogendijk, Gerard W. Hensels, Emiel A. M. Janssen, Linda J. Valentijn, Frank Baas, Marianne de Visser, Pieter A. Bolhuis, A.A.W.M. Gabreëls‐Festen, F.J.M. Gabreëls, P. de onghe, J. J. Martin, Christine Van Broeckhoven,
Tópico(s)Peripheral Neuropathies and Disorders
ResumoIsolated 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.
Referência(s)