Analysis of mutations in 17p 11.2 region in patients with Charcot-Marie-Tooth type 1 disease and patients with tomaculose neuropathy

Analysis of mutations in 17p 11.2 region in patients with Charcot-Marie-Tooth type 1 disease and patients with tomaculose neuropathy

Charcot-Marie-Tooth type 1Α disease (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) are common inherited disorders of the peripheral nervous system associated with duplication and deletion respectively, of the 17p11.2 segment including the gene of peripheral myelin protei...

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Bibliographic Details
Main Authors: Zamurović Nataša, Milić Vedrana, Dačković Jelena, Zamurović Dragan, Čuljković Biljana, Pavlović Sanja, Apostolski Slobodan A., Romac Stanka P.
Format: Article
Language:English
Published: Serbian Medical Society 2002-01-01
Series:Srpski Arhiv za Celokupno Lekarstvo
Subjects:
Charcot-Marie-Tooth type 1A disease
hereditary neuropathy with liability to pressure palsies
duplications
deletions
Online Access:http://www.doiserbia.nb.rs/img/doi/0370-8179/2002/0370-81790204059Z.pdf

Internet

http://www.doiserbia.nb.rs/img/doi/0370-8179/2002/0370-81790204059Z.pdf

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