コレマツ　セイゴ   KOREMATSU Seigo   是松　聖悟    所属   埼玉医科大学  医学部 総合医療センター　小児科（小児科､総合周産期母子医療センター新生児科、小児救命救急センター）    職種   教授
論文種別	学術雑誌(原著)
言語種別	日本語
査読の有無	査読あり
表題	Non-Fukuyama type merosin-positive congenital muscular dystrophy with delayed muscle fiber type differentiation : A case report
掲載誌名	正式名：No To Hattatsu ISSNコード：00290831
巻・号・頁	27(4),309-314頁
著者・共著者	S. Korematsu,O. Kobayashi,N. Fukushima,H. Sawaguchi,T. Ishihara,T. Izumi,T. Ogawa,I. Nonaka
発行年月	1995
概要	A patient with non-Fukuyama type merosin-positive congenital muscular dystrophy (nonFCMD) who had severe muscle weakness leading to early death was reported. He was the first product of epileptic mother who had been placed on phenobarbital and phenytoin. The patient had severe respiratory failure and muscle weakness at the neonatal period, and died at 4 months of age. Multiple joint contractures were also noted at birth. Serum creatine kinase was within normal limits (123 IU/l). Electromyography showed a myogenic pattern. Brain computed tomographic (CT) scan and magnetic resonance imaging (MRI) were normal without white matter lucency or pachygyria. Muscle biopsy revealed dystrophic changes and type 2C fiber predominance. Dystrophin, dystrophin associated glycoproteins and merosin were all positively demonstrated. Although patients with merosin-positive nonFCMD have relatively mild clinical course, on patient had severe muscle weakness with fatal outcome. Defect in muscle fiber maturation and differentiation, such as an increase of undifferentiated type 2C fibers, may be a major factor to influence muscle symptoms in non FCMD.
PMID	7612293