Article
[Molecular genetic diagnosis and clinical features of hereditary neuropathy with liability to pressure palsies in Belarusian patients].
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova - 1 Jan 2016
Asadchuk T V, Rumiantseva N V, Naumchik I V, Likhachev S A, Pleshko I V, Shalkevich L V, Jevneronok I V, Kachan J P
Abstract excerpt
OBJECTIVE: To analyze the molecular defect, a phenotype of hereditary neuropathy with liability to pressure palsies (HNPP, OMIM 162500), in patients with PMP22 gene mutation caused by 1.5 Mb deletion at 17p11.2. and present the principles of diagnosis and genetic counselling. MATERIAL AND METHODS: Patients were selected on the basis of the results of the clinical/genealogical analysis, neurological examination...
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