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Heterogeneous Characteristics of Korean Patients with Dysferlinopathy
Dysferlinopathy is caused by mutations in the DYSF gene. To characterize the clinical spectrum, we investigated the characteristics of 31 Korean dysferlinopathy patients confirmed by immunohistochemistry. The mean age of symptom onset was 22.23 ± 7.34 yr. The serum creatine kinase (CK) was highly in...
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| Hauptverfasser: | , , , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
The Korean Academy of Medical Sciences
2012
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3314856/ https://ncbi.nlm.nih.gov/pubmed/22468107 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3346/jkms.2012.27.4.423 |
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