Open AccessA Case of Adult-Onset Centronuclear Myopathy
Author(s) -
Sang-Jun Na,
Tai Seung Kim,
Young Chul Choi
Publication year - 2004
Publication title -
yonsei medical journal/yonsei medical journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.702
H-Index - 63
eISSN - 1976-2437
pISSN - 0513-5796
DOI - 10.3349/ymj.2004.45.2.352
Subject(s) - congenital myopathy , pediatrics , age of onset , myopathy , medicine , family history , rare disease , inheritance (genetic algorithm) , disease , pathology , biology , genetics , biopsy , muscle biopsy , gene
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.