Two cases with dysferlinopathy

Two cases with dysferlinopathy

Dysferlinopathy includes a rare spectrum of muscle disease characterized by two main phenotypes: Miyoshi myopathy(MM) and Limb Girdle muscular dystrophy(LGMD 2B) and results from a mutation of the gene that codes dysferline protein (DYSF gene, 2p13). In this report, we present 2 cases with dysferlin...

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Veröffentlicht in:Türk nöroloji dergisi 2011-03, Vol.17 (1), p.45-50
Hauptverfasser: Gaye Eryaşar, Yaprak Seçil, Yeşim Beckmann, Ayşen İnceoğlu Kendir, A. Gülden Diniz, Mustafa Başoğlu
Format: Artikel
Sprache:eng
Schlagworte:
Dysferlin
dysferlinopathy
Limb-girdle muscular dystrophy type 2B
Miyoshi miyopathy
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Zusammenfassung:Dysferlinopathy includes a rare spectrum of muscle disease characterized by two main phenotypes: Miyoshi myopathy(MM) and Limb Girdle muscular dystrophy(LGMD 2B) and results from a mutation of the gene that codes dysferline protein (DYSF gene, 2p13). In this report, we present 2 cases with dysferlinopathy whose diagnosis were confirmed by clinical and muscle biopsy findings
ISSN:1301-062X
1309-2545