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001-es BibID:BIBFORM016923
035-os BibID:(WoS)000281259200010 (Scopus)78649962110
Első szerző:Hadzsiev Kinga
Cím:Mitochondrial DNA 11777C > a mutation associated leigh syndrome : case report with a review of the previously described pedigrees / Hadzsiev Kinga, Maasz Anita, Kisfali Peter, Kalman Endre, Gomori Eva, Pal Endre, Berenyi Ervin, Komlosi Katalin, Melegh Bela
Dátum:2010
ISSN:1535-1084
Megjegyzések:Here, we present a male infant with clinical signs of typical Leighsyndrome. The first symptom, myoclonus was presented already on the 5thday of life; at 7 months of age limb convulsions and cerebral paresiswith hypotonia were developed. At the age of 11 months, MRI verifiedincreased signal intensity in the entire mesencephalon and medullaoblongata; while gray matter proton spectroscopy revealed presence oflactate increase in the brain. At age of 17 months, the child died incardiorespiratory arrest. After autopsy, the diagnosis of Leighsyndrome was established; using DNA isolated from skeletal muscle andliver, heteroplasmic (> 50%) mitochondrial 11777C > A was detected inthe fourth subunit of NADH dehydrogenase enzyme (MTND4) encoding gene,which causes Arg -> Ser replacement. The mutation was also detected inlow copy number in blood of mother. Albeit this mutation type is wellrecognized as a typical mtDNA mutation, according the reports availableon the PubMed, this mutation was described only in four patients withwide phenotypic variations; here, we reviewed the characteristicclinical features of them. Taken together, the earliest onset ofsymptoms, the nature of the first presentation signs, the most rapidprogression, the character of minor additional symptoms, and the earlyfatal outcome differentiate the phenotypic variant of the probandpresented here from cases reported so far by others.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
Megjelenés:Neuromolecular Medicine. - 12 : 3 (2010), p. 277-284. -
További szerzők:Maász Anita Kisfali Péter Kálmán Endre Gömöri Éva Pál Endre Berényi Ervin (1964-) (radiológus) Komlósi Katalin Melegh Béla
Internet cím:DOI
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