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TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus.

Adeline Ngoh1,2, Jose Bras3,4, Rita Guerreiro3,4

  • 1Neurosciences Unit, University College London, Institute of Child Health, London, UK.

Tremor and Other Hyperkinetic Movements (New York, N.Y.)
|April 22, 2017
PubMed
Summary

Genetic testing identified compound heterozygous mutations in the TBC1D24 gene in siblings with polymyoclonus and neurodevelopmental delay. This finding expands the known spectrum of TBC1D24-related disorders.

Keywords:
TBC1D24myoclonus

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