Two cases with dysferlinopathy

Gaye Eryaşar; Yaprak Seçil; Yeşim Beckmann; Ayşen İnceoğlu Kendir; A. Gülden Diniz; Mustafa Başoğlu

Gaye Eryaşar¹, Yaprak Seçil¹, Yeşim Beckmann¹, Ayşen İnceoğlu Kendir¹, A. Gülden Diniz², Mustafa Başoğlu¹

¹Izmir Atatürk Training and Research Hospital 1.Nerology Department
²Izmir Dr.Behçet Uz Children

Keywords: s Dysferlin, dysferlinopathy, Miyoshi miyopathy, Limb-girdle muscular dystrophy type 2B

Abstract

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.