A novel mutation (K317M) in the <i>MAPT</i> gene causes FTDP and motor neuron disease

2005100 citationsJournal Article

Authors

J.J. Zarranz · Fernandez Hospital

Isidró Ferrer · Fernandez Hospital

E. Lezcano · Fernandez Hospital

Maribel Forcadas · Fernandez Hospital

B. Eizaguirre · Fernandez Hospital

Begoña Atarés · Fernandez Hospital

Berta Puig · Fernandez Hospital

Abstract

Genetic analysis revealed the same novel mutation (K317M) in exon 11 of the MAPT gene in both pedigrees. A common haplotype between members of the two pedigrees suggests that they belong to the same family.

Topics & Keywords

Neurological diseases and metabolism Amyotrophic Lateral Sclerosis Research Mitochondrial Function and Pathology

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: Neurology

Volume 64, Issue 9, pp. 1578-1585

DOI: 10.1212/01.wnl.0000160116.65034.12

Field-Weighted Citation Impact: 5.17