Leszek Lubos

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We have analysed the heteroplasmy level in 11 individuals from 3 families harbouring the mitochondrial 11778A mutation responsible for Leber hereditary optic neuropathy using last cycle hot PCR. The mutation level exceeded 90% both in affected and in unaffected individuals. We also checked whether any of the families belonged to the J haplogroup of(More)
The Leber hereditary optic neuropathy (LHON) is a disease due to a mtDNA mutation. The disorder results from enzymatic perturbations in the mitochondrial respiratory chain. Clinically the LHON may present as a progressive axonal atrophy of the optic nerves with or without other neurological symptoms. The process of reaching the diagnosis of the LHON by(More)
We are presenting a case of Parkinson-ALS-Dementia complex in 53 years old male. Outstanding bulbar signs with muscular atrophy of tongue, muscular atrophy of shoulder girdle together with massive fasciculations (myoclonus type descending from spinal cord) have been observed. Clear Parkinson's syndrome coexisted--bradykinesia, rigidity with cogwheel(More)
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