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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
[Detection and diagnosis of hereditary monogenic neurologic diseases in Slovakia]
A Jurasova1, P Traubner, R Behulova
1Department of Neurology, School of Medicine, Bratislava, Slovakia.
Bratislavske Lekarske Listy
|May 29, 2000
Abstract:
Authors present a clinical symptoms recapitulation of the most important monogenic hereditary neuromuscular diseases, their molecular-genetic causes and the possibilities of diagnostic on the level of DNA analysis. Low detectability of these pathologic states in Slovak republic is stressed and possible causes of this state are analyzed. (Ref. 10.)
