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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

La mutación de-novo en la neuropatía motora y sensorial hereditaria tipo I

J E Hoogendijk1, G W Hensels, A A Gabreëls-Festen

  • 1Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands.

Lancet (London, England)
|May 2, 1992
PubMed
Resumen

Ahora se entiende que la mayoría de los casos aislados de Charcot-Marie-Tooth tipo 1 (HMSN I) son autosómicamente dominantes. Una duplicación del cromosoma 17, una causa común de HMSN I dominante, aparece como una nueva mutación en la mayoría de los pacientes esporádicos, lo que afecta el asesoramiento genético.

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