Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations

PURPOSE: This study was designed to investigate the characteristics of Korean patients with calpainopathy. MATERIALS AND METHODS: Thirteen patients from ten unrelated families were diagnosed with calpainopathy via direct or targeted sequencing of the CAPN3 gene. Clinical, mutational, and pathologica...

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Bibliografiske detaljer
Udgivet i:Yonsei Med J
Main Authors: Park, Hyung Jun, Jang, Hoon, Lee, Jung Hwan, Shin, Ha Young, Cho, Sung-Rae, Park, Kee Duk, Bang, Duhee, Lee, Min Goo, Kim, Seung Min, Lee, Ji Hyun, Choi, Young-Chul
Format: Artigo
Sprog:Inglês
Udgivet: Yonsei University College of Medicine 2016
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Original Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4696950/
https://ncbi.nlm.nih.gov/pubmed/26632398
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3349/ymj.2016.57.1.173
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