Article
Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies.
Human genetics - 1 Feb 1994
Mariman E C, Gabreëls-Festen A A, van Beersum S E, Jongen P J, van de Looij E, Baas F, Bolhuis P A, Ropers H H, Gabreëls F J
Abstract excerpt
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 sensory neuropathy type Ia (HMSNIa, 17p11.2-p12). Therefore, the gene for peripheral myelin protein 22 (PMP-22) is...
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