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Ann Clin Neurophysiol > Volume 8(1); 2006 > Article
Ann Clin Neurophysiol. 2006; 8(1): 98-101.
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
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
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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