Article
[Syndrome Leigh caused by mutations in the SURF1 gene: clinical and molecular-genetic characteristics].
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova - 1 Jan 2010
Tsygankova P G, Mikhaĭlova S V, Zakharova E Iu, Pichkur N A, Il'ina E S, Nikolaeva E A, Rudenskaia G E, Dadali E L, Kolpakchi L M, Fedoniuk I D, Matiushchenko G N
Abstract excerpt
Syndrome Leigh (SL) or subacute necrotizing encephalomyelopathy - is a rare hereditary genetically heterogeneous disease from the group of mitochondrial encephalomyopathies. Twenty-seven children with SL were examined using clinical, laboratory (measuring lactate levels), MRI and molecular-genetic (polymerase chain reaction genotyping of 9 exons of the SURF1 gene) studies. The mean age of manifestation was 11,6...
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