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