"1" . . . . "Magner, Martin" . . . . "Mitochondri\u00E1ln\u00ED encefalomyopatie na podklad\u011B deficitu proteinu Sco2 s obrazem SMA-like neurogenn\u00ED svalov\u00E9 atrofie - kazuistiky" . "7"^^ . "Vesel\u00E1, Kate\u0159ina" . "Mitochondrialni encefalomyopatie s kardiomyopatii a lakt\u00E1tovou acid\u00F3zou, je z\u00E1va\u017En\u00E9 onemocn\u011Bn\u00ED, kter\u00E9 je zp\u016Fsobeno mutaci v genu pro asembla\u010Dn\u00ED protein Sco2. Pr\u00E1ce popisuje kazuistiky dvou d\u00EDvek s deficitem SCO2 proteinu. Diagn\u00F3za mitochondrialn\u00EDho onemocn\u011Bni byla zva\u017Eovana vzhledem k \u0161ir\u0161\u00EDmu posti\u017Een\u00ED centr\u00E1ln\u00ED a perifern\u00ED nervov\u00E9 soustavy (encefalopatie, neuropatie) a dal\u0161\u00EDch org\u00E1n\u016F a tk\u00E1n\u00ED (kardiomyopatie, myopatie, hepatopatie). Zji\u0161t\u011Bn\u00ED tohoto fenotypu v \u0161ir\u0161\u00EDm klinick\u00E9m kontextu m\u016F\u017E vest k c\u00EDlen\u00E9 molekul\u00E1rn\u011B-genetick\u00E9 anal\u00FDze a specifick\u00E9 diagn\u00F3ze bez pot\u0159eby \u010Detn\u00FDch zat\u011B\u017Euj\u00EDc\u00EDch vy\u0161et\u0159eni. Rozvoj SMA-like fenotypu vedl k c\u00EDlen\u00E9mu vy\u0161et\u0159eni SCO2 genu a spr\u00E1vn\u00E9 diagn\u00F3ze." . . "Sco2 Protein Deficiency-Based Mitochondrial Encephalomyopathy with the SMA-like Picture of Neurogenic Muscle Atrophy - Case Reports"@en . . . "\u010Cesk\u00E1 a slovensk\u00E1 neurologie a neurochirurgie" . . "Mitochondri\u00E1ln\u00ED encefalomyopatie na podklad\u011B deficitu proteinu Sco2 s obrazem SMA-like neurogenn\u00ED svalov\u00E9 atrofie - kazuistiky"@cs . . "CZ - \u010Cesk\u00E1 republika" . . "Mitochondrialni encefalomyopatie s kardiomyopatii a lakt\u00E1tovou acid\u00F3zou, je z\u00E1va\u017En\u00E9 onemocn\u011Bn\u00ED, kter\u00E9 je zp\u016Fsobeno mutaci v genu pro asembla\u010Dn\u00ED protein Sco2. Pr\u00E1ce popisuje kazuistiky dvou d\u00EDvek s deficitem SCO2 proteinu. Diagn\u00F3za mitochondrialn\u00EDho onemocn\u011Bni byla zva\u017Eovana vzhledem k \u0161ir\u0161\u00EDmu posti\u017Een\u00ED centr\u00E1ln\u00ED a perifern\u00ED nervov\u00E9 soustavy (encefalopatie, neuropatie) a dal\u0161\u00EDch org\u00E1n\u016F a tk\u00E1n\u00ED (kardiomyopatie, myopatie, hepatopatie). Zji\u0161t\u011Bn\u00ED tohoto fenotypu v \u0161ir\u0161\u00EDm klinick\u00E9m kontextu m\u016F\u017E vest k c\u00EDlen\u00E9 molekul\u00E1rn\u011B-genetick\u00E9 anal\u00FDze a specifick\u00E9 diagn\u00F3ze bez pot\u0159eby \u010Detn\u00FDch zat\u011B\u017Euj\u00EDc\u00EDch vy\u0161et\u0159eni. Rozvoj SMA-like fenotypu vedl k c\u00EDlen\u00E9mu vy\u0161et\u0159eni SCO2 genu a spr\u00E1vn\u00E9 diagn\u00F3ze."@cs . "8"^^ . . "Sco2 Protein Deficiency-Based Mitochondrial Encephalomyopathy with the SMA-like Picture of Neurogenic Muscle Atrophy - Case Reports"@en . . "RIV/00216208:11110/10:6887!RIV11-GA0-11110___" . "I, P(GA303/07/0781), P(NS9782)" . . . "73" . "[08FA160757A4]" . "Zeman, Ji\u0159\u00ED" . . "1210-7859" . . . . . "Petr\u00E1k, Bo\u0159ivoj" . . "3"^^ . "000275593800011" . "Vobruba, V\u00E1clav" . . "11110" . . . "Mitochondrial encephalopathy with cardiomyopathy and lactic acidosis is a severe disorder arising out of a mutation in gene coding protein Sco2. The case reports of two girls with Sco2 protein deficit are described in our study. Respiratory chain disorder was considered due to broad impairment of the central and peripheral nervous systems (encephalopathy, neuropathy) and other tissue and organ involvement (cardiomyopathy, myopathy, hepatopathy). Revealing the phenotype in a detailed clinical context may lead to targeted molecular-genetic analysis and specific diagnostics without calling upon other investigations."@en . "mitochondrial encephalopathy; neurogenic muscle atrophy; spinal muscular atrophy; SMA; cytochrome c oxidase; SCO2 gene"@en . "271610" . "Honz\u00EDk, Tom\u00E1\u0161" . "Mitochondri\u00E1ln\u00ED encefalomyopatie na podklad\u011B deficitu proteinu Sco2 s obrazem SMA-like neurogenn\u00ED svalov\u00E9 atrofie - kazuistiky" . "Je\u0161ina, Pavel" . "RIV/00216208:11110/10:6887" . "Klement, Petr" . . "Mitochondri\u00E1ln\u00ED encefalomyopatie na podklad\u011B deficitu proteinu Sco2 s obrazem SMA-like neurogenn\u00ED svalov\u00E9 atrofie - kazuistiky"@cs .