[Detection and diagnosis of hereditary monogenic neurologic diseases in Slovakia].
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.)
Jurasova
A
A
Department of Neurology, School of Medicine, Bratislava, Slovakia.
Traubner
P
P
Behulova
R
R
Mezenska
R
R
Lukacova
M
M
D006801:Humans; D006816:Huntington Disease / Q000175:diagnosis* / Q000235:genetics; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis* / Q000235:genetics; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000235:genetics; D018154:Slovakia