TY - JOUR
T1 - A case of adult-onset centronuclear myopathy
AU - Na, Sang Jun
AU - Kim, Tai Seng
AU - Choi, Young Chul
PY - 2004/4/30
Y1 - 2004/4/30
N2 - 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.
AB - 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.
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U2 - 10.3349/ymj.2004.45.2.352
DO - 10.3349/ymj.2004.45.2.352
M3 - Article
C2 - 15119013
AN - SCOPUS:2442681550
SN - 0513-5796
VL - 45
SP - 352
EP - 355
JO - Yonsei Medical Journal
JF - Yonsei Medical Journal
IS - 2
ER -