- Identification of a Dysferlin Gene Mutation in a Korean Case with Miyoshi Myopathy
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Oh SH, Kim TS, Choi YC
- KMID: 1103918
- Yonsei Med J.
- 2004 Oct;45(5):927-930.
- doi: 10.3349/ymj.2004.45.5.927
Recent genetic and immunohistochemical analyses have shown that Miyoshi myopathy (MM) is caused by a mutation in the DYSF gene, which induces dysfunction of dysferlin. The author described one patient... -
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