Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo <i>PTEN</i> mutation.

Bansagi, Boglarka; Phan, Vietxuan; Baker, Mark R; O'Sullivan, Julia; Jennings, Matthew J; Whittaker, Roger G; Müller, Juliane S; Duff, Jennifer; Griffin, Helen; Miller, James AL; Gorman, Grainne S; Lochmüller, Hanns; Chinnery, Patrick; Roos, Andreas; Swan, Laura E; Horvath, Rita

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Authors

Bansagi, Boglarka

Phan, Vietxuan

Baker, Mark R

O'Sullivan, Julia

Jennings, Matthew J

Whittaker, Roger G

Müller, Juliane S

Publication Date

2018-05-02

Journal Title

Neurology

ISSN

0028-3878

Volume

Issue

Pages

e1842-e1848

Language

eng

Type

Article

Physical Medium

Print-Electronic

Metadata

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Citation

Bansagi, B., Phan, V., Baker, M. R., O'Sullivan, J., Jennings, M. J., Whittaker, R. G., Müller, J. S., et al. (2018). Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo <i>PTEN</i> mutation.. Neurology, 90 (21), e1842-e1848. https://doi.org/10.1212/wnl.0000000000005566

Keywords

Humans, Hamartoma, Hereditary Central Nervous System Demyelinating Diseases, Genetic Predisposition to Disease, Mutation, Adult, Male, PTEN Phosphohydrolase, Hereditary Sensory and Motor Neuropathy, Whole Exome Sequencing

Sponsorship

WELLCOME TRUST (101876/Z/13/Z)

Wellcome Trust (109915_A_15_Z)

MRC (MR/N025431/2)

Identifiers

External DOI: https://doi.org/10.1212/wnl.0000000000005566

This record's URL: https://www.repository.cam.ac.uk/handle/1810/284680

Rights

Attribution 4.0 International

Licence URL: https://creativecommons.org/licenses/by/4.0/

Except where otherwise noted, this item's licence is described as Attribution 4.0 International