Genes for hereditary sensory and autonomic neuropathies: a genotype–phenotype correlation

by Annelies Rotthier, Jonathan Baets, Els De Vriendt, An Jacobs, Michaela Auer-Grumbach, Nicolas Lévy, Nathalie Bonello-Palot, Sara Sebnem Kilic, Joachim Weis, Andrés Nascimento, Marielle Swinkels, Moyo C. Kruyt, Albena Jordanova, Peter De

Jonghe, and Vincent Timmerman

BrainVolume 132(10):2699-2711

October 8, 2009

© 2009 The Author(s). Published by Oxford University Press on behalf of Brain.

Segregation of p.Ser331Phe and p.Ala352Val missense mutations in SPTLC1 (A and B) and segregation and cDNA analysis of the p.Arg565Gln missense mutation in NTRK1 (C and D).

Annelies Rotthier et al. Brain 2009;132:2699-2711

© 2009 The Author(s). Published by Oxford University Press on behalf of Brain.

Schematic presentation of protein structures of SPTLC1, RAB7 (Pereira-Leal and Seabra, 2000), WNK1/HSN2 and NTRK1 (Indo, 2001) with mutations identified in this study causing HSAN.

Annelies Rotthier et al. Brain 2009;132:2699-2711

© 2009 The Author(s). Published by Oxford University Press on behalf of Brain.