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...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Galenos Yayinevi
2011-03-01
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| Series: | Türk Nöroloji Dergisi |
| Subjects: | |
| Online Access: | http://www.tjn.org.tr/jvi.aspx?pdir=tjn&plng=eng&un=TJN-57060&look4= |
| _version_ | 1828031786732486656 |
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| author | Gaye Eryaşar Yaprak Seçil Yeşim Beckmann Ayşen İnceoğlu Kendir A. Gülden Diniz Mustafa Başoğlu |
| author_facet | Gaye Eryaşar Yaprak Seçil Yeşim Beckmann Ayşen İnceoğlu Kendir A. Gülden Diniz Mustafa Başoğlu |
| author_sort | Gaye Eryaşar |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-10T14:54:27Z |
| format | Article |
| id | doaj.art-697978844bff4b80873b8c6ba302e62b |
| institution | Directory Open Access Journal |
| issn | 1301-062X |
| language | English |
| last_indexed | 2024-04-10T14:54:27Z |
| publishDate | 2011-03-01 |
| publisher | Galenos Yayinevi |
| record_format | Article |
| series | Türk Nöroloji Dergisi |
| spelling | doaj.art-697978844bff4b80873b8c6ba302e62b2023-02-15T16:07:27ZengGalenos YayineviTürk Nöroloji Dergisi1301-062X2011-03-011714550Two cases with dysferlinopathyGaye Eryaşar0Yaprak Seçil1Yeşim Beckmann2Ayşen İnceoğlu Kendir3A. Gülden Diniz4Mustafa Başoğlu5Izmir Atatürk Training and Research Hospital 1.Nerology DepartmentIzmir Atatürk Training and Research Hospital 1.Nerology DepartmentIzmir Atatürk Training and Research Hospital 1.Nerology DepartmentIzmir Atatürk Training and Research Hospital 1.Nerology DepartmentIzmir Dr.Behçet Uz ChildrenIzmir Atatürk Training and Research Hospital 1.Nerology DepartmentDysferlinopathy 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.http://www.tjn.org.tr/jvi.aspx?pdir=tjn&plng=eng&un=TJN-57060&look4=DysferlindysferlinopathyMiyoshi miyopathyLimb-girdle muscular dystrophy type 2B |
| spellingShingle | Gaye Eryaşar Yaprak Seçil Yeşim Beckmann Ayşen İnceoğlu Kendir A. Gülden Diniz Mustafa Başoğlu Two cases with dysferlinopathy Türk Nöroloji Dergisi Dysferlin dysferlinopathy Miyoshi miyopathy Limb-girdle muscular dystrophy type 2B |
| title | Two cases with dysferlinopathy |
| title_full | Two cases with dysferlinopathy |
| title_fullStr | Two cases with dysferlinopathy |
| title_full_unstemmed | Two cases with dysferlinopathy |
| title_short | Two cases with dysferlinopathy |
| title_sort | two cases with dysferlinopathy |
| topic | Dysferlin dysferlinopathy Miyoshi miyopathy Limb-girdle muscular dystrophy type 2B |
| url | http://www.tjn.org.tr/jvi.aspx?pdir=tjn&plng=eng&un=TJN-57060&look4= |
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