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MeSH:(Distal Myopathies/*genetics)

1.Identification of a Dysferlin Gene Mutation in a Korean Case with Miyoshi Myopathy.

Seung Hun OH ; Tai Seung KIM ; Young Chul CHOI

Yonsei Medical Journal 2004;45(5):927-930

2.Clinical Characteristics and Molecular Genetic Analysis of Korean Patients with GNE Myopathy.

Jae Eun SIM ; Hyung Jun PARK ; Ha Young SHIN ; Tai Seung NAM ; Seung Min KIM ; Young Chul CHOI

Yonsei Medical Journal 2013;54(3):578-582

3.Familial and sporadic distal myopathy with rimmed vacuoles: comparison of the clinical, pathological, laboratory test and follow-up data.

Xiang-hui LU ; Chuan-qiang PU ; Xu-sheng HUANG ; Yan-ling MAO ; Jie-xiao LIU ; Ping LUO

Journal of Southern Medical University 2011;31(5):856-859

4.GNE gene mutation analysis in 5 patients with distal myopathy with rimmed vacuoles.

Xiang-hui LU ; Chuan-qiang PU ; Qiang SHI ; Wen-jing LUO ; Ke LI

Journal of Southern Medical University 2011;31(8):1421-1424

6.Heterogeneous Characteristics of Korean Patients with Dysferlinopathy.

Hyung Jun PARK ; Ji Man HONG ; Gyoung Im SUH ; Ha Young SHIN ; Seung Min KIM ; Il Nam SUNWOO ; Bum Chun SUH ; Young Chul CHOI

Journal of Korean Medical Science 2012;27(4):423-429

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