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Region Hovedstaden - en del af Københavns Universitetshospital
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Hereditary spastic paraplegia caused by the PLP1 'rumpshaker mutation'

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Vis graf over relationer
Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous neurodegenerative disorders characterised by progressive spasticity and weakness in the lower limbs. Mutations in PLP1 on the X chromosome cause spastic paraplegia type 2 (SPG2) or the allelic Pelizaeus-Merzbacher Disease (PMD). The PLP1 protein is a major myelin protein involved in stabilisation and maintenance of the myelin sheath. The function of the protein has been studied in the rumpshaker mouse, which is a model of SPG2/PMD.
OriginalsprogEngelsk
TidsskriftJournal of Neurology, Neurosurgery and Psychiatry
Vol/bind81
Udgave nummer6
Sider (fra-til)666-72
Antal sider13
ISSN0022-3050
DOI
StatusUdgivet - 1 jun. 2010

ID: 31036857