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Journal of the Korean Academy of Rehabilitation Medicine 2002;26(4):485-488.
Myopathy with Congenital Fiber Type Disproportion (CFTD): A case report .
Park, Chang Il , Cho, Sung Rae , Na, Sang Il , Moon, Ja Young , Kim, Tai Seung , Lim, Beom Jin
1Department Research Institute of Rehabilitation Medicine, Yonsei University College of Medicine, Korea.
2Department Research Institute of Pathology, Yonsei University College of Medicine, Korea.
선천성 근섬유 불균형 근병증 ⁣증례 보고⁣
박창일, 조성래, 나상일, 문자영, 김태승1, 임범진1
연세대학교 의과대학 재활의학교실 및 재활의학연구소, 1병리학교실
Abstract

Congenital fiber type disproportion (CFTD) has been described as a form of congenital myopathy characterized by the smallness and marked predominance of type I fibers in a muscle biopsy. Only major morphological characters in CFTD are the abnormality of the size of muscle fibers and the disproportion of the type of muscle fibers. Clinical feature of CFTD is characterized by congenital hypotonia, nonprogressive muscle weakness and delayed motor milestones. The disease is sometimes associated with a myopathic pattern in the electromyography (EMG) and a slightly increased creatine kinase (CK). In this report, we describe a case of the child presented the subtle clinical symptoms of mild proximal weakness of lower extremities, who was diagnosed as CFTD not by the laboratory findings such as EMG and muscle enzyme study of CK initially but with a muscle biopsy finally. (J Korean Acad Rehab Med 2002; 26: 485-488)

Key Words: Congenital fiber type disproportion, Congenital myopathy, Muscle biopsy


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