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FC17.1 Hereditary neuropathy with liability to pressure palsies phenotypes linked with a new MPZ mutation (TYR145STOP)

✍ Scribed by A. Magot; P. Latour; J.M. Mussini; Y. Pereon


Book ID
118433258
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
42 KB
Volume
117
Category
Article
ISSN
1388-2457

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Hereditary neuropathy with liability to
✍ Anthony A. Amato; Richard J. Barohn πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 402 KB

Hereditary neuropathy with liability to pressure palsies (HNPP) is usually caused by a 1.5-Mb deletion in chromosome 17~11.2, the inverse mutation to the duplication seen in the majority of Charcot-Marie-Tooth type 1A (CMT IA) patients. Although most patients with HNPP present with pressure palsies

Evidence for genetic heterogeneity under
✍ E. C. M. Mariman; A. A. W. M. GabreΓ«ls-Festen; S. E. C. Beersum; P. J. H. Jongen πŸ“‚ Article πŸ“… 1994 πŸ› Springer 🌐 English βš– 624 KB

Hereditary neuropathy with liability to pressure palsies (HNPP) is a disorder of the peripheral nervous system, the cause of which has recently been identified as a deletion on chromosome 17p. The deletion corresponds to the duplication that is commonly observed in patients with hereditary motor and