e-ISSN 1309-2545      ISSN 1301-062X
TR    ENG
 

Download Current Issue.

Volume : 26 Issue : 2 Year : 2020

Current Issue Archive Popular Articles Ahead of Print Submit Your Article Login
Turkish Journal of Neurology Indexed By
  Two cases with dysferlinopathy [Turk J Neurol]
Turk J Neurol. 2011; 17(1): 45-50

Two cases with dysferlinopathy

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

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.

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


Gaye Eryaşar, Yaprak Seçil, Yeşim Beckmann, Ayşen İnceoğlu Kendir, A. Gülden Diniz, Mustafa Başoğlu. Two cases with dysferlinopathy. Turk J Neurol. 2011; 17(1): 45-50

Corresponding Author: Gaye Eryaşar, Türkiye


TOOLS
Full Text PDF
Print
Download citation
RIS
EndNote
BibTex
Medlars
Procite
Reference Manager
Share with email
Share
Send email to author

Similar articles
PubMed
Google Scholar




 
© Copyright 2020 Turkish Journal of Neurology
Home        |        Contact
LookUs & OnlineMakale