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Journal of the Korean Neurological Association 2006;24(5): 491-494.
중심핵근육병증 1예
김현경, 류위선 홍윤호 성정준 박경석 박성호 이광우
서울대학교 의과대학 신경과학교실
A Case of Centronuclear Myopathy
Hyun Kyung Kim
Department of Neurology, Seoul National University College of Medicine, Seoul, Korea
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