Hereditary neuropathy with liability to pressure palsies with a small deletion interrupting the PMP22 gene

Hereditary neuropathy with liability to pressure palsies is associated with a deficiency in the Peripheral Myelin Protein 22 (PMP22). Most hereditary neuropathy with liability to pressure palsies cases are caused by a deletion of a 1.5 Mb region on chromosome 17p11.2-12 encompassing the PMP22 gene....

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Bibliographic Details
Published in:Neuromuscular disorders : NMD 2002-10, Vol.12 (7), p.651-655
Main Authors: van de Wetering, R.A.C, Gabreëls-Festen, A.A.W.M, Timmerman, V, Padberg, G.W, Gabreëls, F.J.M, Mariman, E.C.M
Format: Article
Language:English
Subjects:
17p11.2 deletion
Adult
Blotting, Southern
Hereditary neuropathy with liability to pressure palsies
Hereditary Sensory and Motor Neuropathy - genetics
Humans
Male
Myelin Proteins - genetics
Paralysis - genetics
Peripheral Myelin Protein 22
Pressure
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Summary:Hereditary neuropathy with liability to pressure palsies is associated with a deficiency in the Peripheral Myelin Protein 22 (PMP22). Most hereditary neuropathy with liability to pressure palsies cases are caused by a deletion of a 1.5 Mb region on chromosome 17p11.2-12 encompassing the PMP22 gene. We describe a hereditary neuropathy with liability to pressure palsies family that lacks the common deletion, but carries a small deletion spanning the 3′ region of the PMP22 gene, causing only a partial deletion of one copy of the gene.
ISSN:0960-8966
1873-2364
DOI:10.1016/S0960-8966(02)00025-1