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Kongenitální myopatie s hypoplazií vláken 2. typu
: Z. Pavlovský; Z. Lukáš; M. Kunčíková; A. Zakoutová
: II. PAÚ LF MU Brno, DN FNB, Brno Klinika dětské neurologie FNsP, Ostrava
: Čes.-slov. Patol., , 2001, No. 2, p. 69-71
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Prezentace kazuistiky dvou sourozenců - dívky a chlapce - postižených vzácnou kongenitálnímyopatií, která je charakterizována výraznou hypoplazií a nižší frekvencí vláken typu 2A, deficitem vláken 2B a predominancí vláken prvního typu. Obě děti byly postiženy oftalmoplegií, svalovou slabostí, chlapec vykazoval znaky psychomotorické retardace.
Klíčová slova:
kongenitální myopatie - hypoplazie - vlákna typu 2
Labels
Anatomical pathology Forensic medical examiner Toxicology
Article was published inCzecho-Slovak Pathology
2001 Issue 2-
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