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A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy

✍ Scribed by Olimpia Musumeci; Maria Teresa Bassi; Anna Mazzeo; Marina Grandis; Claudia Crimella; Andrea Martinuzzi; Antonio Toscano

Publisher: Springer Milan
Year: 2010
Tongue: English
Weight: 296 KB
Volume: 32
Category: Article
ISSN: 1590-1874
DOI: 10.1007/s10072-010-0445-8

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## Abstract Introduction: Point mutations in the peripheral myelin protein 22 (__PMP22__) gene rarely cause the hereditary neuropathies Charcot–Marie–Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP), both of which show a demyelinating phenotype. Meth