| A Case of Childhood-onset Form of Nemaline Myopathy |
| Hyun Kyung Kim, Sung-Min Kim, Nam-Hee Kim, Yoon-Ho Hong, Jung-Joon Sung, Gheeyoung Choe, Seong-Ho Park, Kwang-Woo Lee, and Kyung Seok Park |
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| Copyright © 2006 The Korean Society of Clinical Neurophysiology |
| This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium,
provided the original work is properly cited. |
| ABSTRACT |
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Nemaline myopathy is one of the congenital myopathy, which is characterized by histological findings of nemaline bodies (rods) and type 1 fiber hypotrophy and predominance. It can be classified into three forms according to the age of onset and clinical features: congenital form, childhood-onset form, and adult-onset form. We report an 18-year-old patient with generalized muscle weakness and dysmorphic features who was diagnosed as typical childhood-onset nemaline myopathy. |
| Key words:
Nemaline Myopathy, Congenital Myopathy, Dysmorphic Features |
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