J Genet Med.
2016 Jun;13(1):51-54. 10.5734/JGM.2016.13.1.51.
A family with dynamin 2-related centronuclear myopathy without ocular involvement
- Affiliations
-
- 1Department of Neurology, Kyungpook National University Hosipital, Kyungpook National University School of Medicine, Daegu, Korea.
- 2Department of Neurology, Pusan National University Yangsan Hospital, Yangsan, Korea. shinzh@gmail.com
- KMID: 2327704
- DOI: http://doi.org/10.5734/JGM.2016.13.1.51
Abstract
- 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 shows distaldominant muscle atrophy, ptosis, ophthalmoplegia, and contracture. The reported cases of CNM in Caucasian studies showa 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 ofthe most commonly found mutations in Western countries, and all the cases showed ocular symptoms. The proband and hisdaughter had no ocular symptoms despite harboring the same p.R465W mutation. This family makes us speculate that ocularsymptoms in DNM2-related CNM are influenced by ethnic background. In addition, this is the first familial case of DNM2-related CNM in Korea.
