A Case of Adult-Onset Centronuclear Myopathy.
10.3349/ymj.2004.45.2.352
- Author:
Sang Jun NA
1
;
Tai Seung KIM
;
Young Chul CHOI
Author Information
1. Department of Neurology, Yongdong Severance Hospital, Brain Korea 21 Project for Medical Science, Yonsei University College of Medicine, Seoul, Korea. ycchoi@yumc.yonsei.ac.kr
- Publication Type:Case Report
- Keywords:
Centronuclear myopathy;
congenital myopathy;
myotubular myopathy
- MeSH:
Age of Onset;
Female;
Human;
Middle Aged;
Myopathies, Structural, Congenital/genetics/*pathology;
Pedigree
- From:Yonsei Medical Journal
2004;45(2):352-355
- CountryRepublic of Korea
- Language:English
-
Abstract:
Centronuclear myopathy (CNM) is a rare congenital myopathy that is characterized by centrally placed nuclei in the muscle fibers. Based on the time of onset and the mode of inheritance, CNM can be divided into three distinct forms: the severe neonatal form, the childhood onset form, and the adult onset form. This paper describes the case of a female patient with CNM, in whom the disease manifested itself in the fifth decade of life, without any prior family history of such disorders. To the best of our knowledge, this is a rare case of late adult-onset CNM.