Yonsei Med J.  2004 Apr;45(2):352-355.

A Case of Adult-Onset Centronuclear Myopathy

• Na SJ
• Kim TS
• Choi YC

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.

Keyword

Centronuclear myopathy; congenital myopathy; myotubular myopathy

MeSH Terms

Age of Onset
Female
Human
Middle Aged
Myopathies, Structural, Congenital/genetics/*pathology
Pedigree