Literature DB >> 15119013

A case of adult-onset centronuclear myopathy.

Sang-Jun Na1, Tai-Seung Kim, Young-Chul Choi.   

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.

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Year:  2004        PMID: 15119013     DOI: 10.3349/ymj.2004.45.2.352

Source DB:  PubMed          Journal:  Yonsei Med J        ISSN: 0513-5796            Impact factor:   2.759


  1 in total

1.  Autosomal dominant centronuclear myopathy with unique clinical presentations.

Authors:  Jee Young Lee; Ju Hong Min; Yoon Ho Hong; Jung Joon Sung; Sung Hye Park; Seong Ho Park; Kwang Woo Lee; Kyung Seok Park
Journal:  J Korean Med Sci       Date:  2007-12       Impact factor: 2.153

  1 in total

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