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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Bibliografiske detaljer
Main Authors: Park, Hyung Jun, Hong, Ji-Man, Suh, Gyoung Im, Shin, Ha Young, Kim, Seung Min, Sunwoo, Il Nam, Suh, Bum Chun, Choi, Young-Chul
Format: Artigo
Sprog:Inglês
Udgivet: The Korean Academy of Medical Sciences 2012
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Original Article
Online adgang: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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