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J Korean Neurol Assoc. 2006;24(5):491-494.
- A Case of Centronuclear Myopathy
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Hyun Kyung Kim
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Department of Neurology, Seoul National University College of Medicine, Seoul, Korea
- 중심핵근육병증 1예
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김현경, 류위선 홍윤호 성정준 박경석 박성호 이광우
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서울대학교 의과대학 신경과학교실
- Abstract
- Centronuclear myopathy is a rare congenital myopathy, which is characterized by centrally located nuclei and hypotrophy or predominance of type 1 fibers in muscle pathology. It is classified into three forms according to the clinical features and inheritance pattern: the X-linked recessive, the autosomal recessive, and the autosomal dominant forms. We report a case of a patient with generalized muscle weakness, poor muscle bulk, and dysmorphic features who was diagnosed as centronuclear myopathy.KeyWords:Centronuclear myopathy, Congenital myopathy, Dysmorphic features
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