A Case of Centronuclear Myopathy

J Korean Neurol Assoc > Volume 24(5); 2006 > Article

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

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