A case of adult-onset centronuclear myopathy.
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.
Na
Sang-Jun
SJ
Department of Neurology, Yondong Severance Hospital, Yonsei University College of Medicine, 146-92 Gangnam-gu, Seoul 135-720, Korea.
Kim
Tai-Seung
TS
Choi
Young-Chul
YC
D017668:Age of Onset; D005260:Female; D006801:Humans; D008875:Middle Aged; D020914:Myopathies, Structural, Congenital / Q000235:genetics / Q000473:pathology*; D010375:Pedigree