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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Detalles Bibliográficos
Autores principales: Park, Hyung Jun, Hong, Ji-Man, Suh, Gyoung Im, Shin, Ha Young, Kim, Seung Min, Sunwoo, Il Nam, Suh, Bum Chun, Choi, Young-Chul
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2012
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3314856/
https://www.ncbi.nlm.nih.gov/pubmed/22468107
http://dx.doi.org/10.3346/jkms.2012.27.4.423

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3314856/
https://www.ncbi.nlm.nih.gov/pubmed/22468107
http://dx.doi.org/10.3346/jkms.2012.27.4.423

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