Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo <i>PTEN</i> mutation.
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Authors
Bansagi, Boglarka
Phan, Vietxuan
O'Sullivan, Julia
Jennings, Matthew J
Müller, Juliane S
Duff, Jennifer
Miller, James AL
Lochmüller, Hanns
Roos, Andreas
Publication Date
2018-05-02Journal Title
Neurology
ISSN
0028-3878
Volume
90
Issue
21
Pages
e1842-e1848
Language
eng
Type
Article
Physical Medium
Print-Electronic
Metadata
Show full item recordCitation
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