- A family with dynamin 2-related centronuclear myopathy without ocular involvement
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Park JS, Kim DS, Shin JH
- KMID: 2327704
- J Genet Med.
- 2016 Jun;13(1):51-54.
- doi: 10.5734/JGM.2016.13.1.51
Centronuclear myopathy (CNM) is a rare congenital myopathy that is pathologically characterized by the centrally locatednuclei in most of the muscle fibers. On clinical examination, dynamin 2 (DNM2)-related CNM typically... -
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- Clinical and Pathological Features of Korean Patients with DNM2-Related Centronuclear Myopathy
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Park YE, Choi YC, Bae JS, Lee CH, Kim HS, Shin JH, Kim DS
- KMID: 2400171
- J Clin Neurol.
- 2014 Jan;10(1):24-31.
BACKGROUND AND PURPOSE: Centronuclear myopathy (CNM) is characterized by the presence of central nuclei within a large number of muscle fibers. Mutations of the dynamin 2 gene (DNM2) are common... -
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