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CZECH MEDICAL ASSOCIATION J. Ev. PURKYNĚ |
| Journals - Article | |
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| Česky / Czech version | Čes. a Slov. Neurol. Neurochir., 62/95, 1999, No. 4, p. 232–235. |
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Heredi-
tary Neuropathy with a Liability to Pressure Palsies (HNPP) - First Family with HNPP
Confirmed by DNA Analysis in the Slovak Republic Kurča E. 1 , Bettecken T. 2 , Sršňová K. 3 , Drobný M. 1 , Sršeň Š. 3 , Michalik J. 1 , Kučera P. 4 1 |
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Summary: The authors submit the case-report of a family (father and daughter) with a confirmed diagnosis of
hereditary neuropathy with liability to pressure palsies (HNPP). Molecular genetic examination
revealed changes typical for HNPP on the short arm of the 17th chromosome. The authors discuss in
detail clinical, genetic and other aspects of the disease. It is the first family in the Slovak Republic
where HNPP was described.
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