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KMID : 1189120160130010051
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대한의학유전학회지
2016 Volume.13 No. 1 p.51 ~ p.54
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A family with dynamin 2-related centronuclear myopathy without ocular involvement
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Park Jin-Sung
Kim Dae-Seong
Shin Jin-Hong
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Abstract
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Centronuclear myopathy (CNM) is a rare congenital myopathy that is pathologically characterized by the centrally located nuclei in most of the muscle fibers. On clinical examination, dynamin 2 (DNM2)-related CNM typically shows distal dominant muscle atrophy, ptosis, ophthalmoplegia, and contracture. The reported cases of CNM in Caucasian studies show a high prevalence rate of early-onset ptosis and ophthalmoplegia and correlated with the severity of the disease. However, Asian reports show a low prevalence and late-onset ocular symptoms in DNM2-related CNM patients. p.R465W is one of the most commonly found mutations in Western countries, and all the cases showed ocular symptoms. The proband and his daughter had no ocular symptoms despite harboring the same p.R465W mutation. This family makes us speculate that ocular symptoms in DNM2-related CNM are influenced by ethnic background. In addition, this is the first familial case of DNM2-related CNM in Korea.
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KEYWORD
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Centronuclear myopathy, Dynamin II, Ophthalmoplegia
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