Article
Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation.
Neurology - 22 May 2018
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 A L, Gorman Grainne S, Lochmüller Hanns, Chinnery Patrick F, Roos Andreas, Swan Laura E, Horvath Rita
Abstract excerpt
OBJECTIVE: To describe a patient with a multifocal demyelinating motor neuropathy with onset in childhood and a mutation in phosphatase and tensin homolog (PTEN), a tumor suppressor gene associated with inherited tumor susceptibility conditions, macrocephaly, autism, ataxia, tremor, and epilepsy. Functional implications of this protein have been investigated in Parkinson and Alzheimer diseases. METHODS: We...
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