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KMID : 0361420020260040485
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Journal of Korean Academy of Rehabilitation Medicine
2002 Volume.26 No. 4 p.485 ~ p.488
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Myopathy with Congenital Fiber Type Disproportion (CFTD) -A case report-
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박창일/Chang Il Park
조성래/나상일/문자영/김태승/임범진/Sung Rae Cho/Sang Il Na/Ja Young Moon/Tai Seung Kim/Beom Jin Lim
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Abstract
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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.
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KEYWORD
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