Neurol. pro Praxi, 2004; 3: 135-136

Myopatie - základní charakteristika, klasifikace a perspektivy

prof. MUDr. Zdeněk Ambler DrSc1, prof. MUDr. Josef Bednařík CSc2
1 Neonatologické oddělení, FN a LF UK, Plzeň
2 Neurologická klinika LF MU a FN u sv. Anny, Brno

Keywords: myopatie, svalová slabost, klasifikace, molekulární klasifikace, genový defekt.

Published: December 31, 2004  Show citation

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Ambler Z, Bednařík J. Myopatie - základní charakteristika, klasifikace a perspektivy. Neurol. praxi. 2004;7(3):135-136.

Uvedena základní charakteristika a klinický obraz myopatií, diagnostický postup a různé formy klasifikace.

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    References

    1. Bednařík J a kol. Nemoci kosterního svalstva. Praha: Triton 2001: 470 s.
    2. Hoffman EP, Brown RH, Kunkel LM. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 1987; 51: 919-928. Go to original source... Go to PubMed...
    3. Karpati G, Sinnreich M. The molecular era of myology. J Neuropathol Exp Neurol 2003; 62: 1203-1210. Go to original source... Go to PubMed...
    4. Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 1987; 50: 509-517. Go to original source... Go to PubMed...
    5. Monaco AP, Neve RL, Colletti-Feener C, Bertelson CJ, Kurnit DM, Kunkel LM. Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene. Nature 1986; 323: 646-650. Go to original source... Go to PubMed...

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