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	英語
査読の有無	査読あり
表題	Congenital neuromuscular disease with uniform type-1 fibers, presenting early stage dystrophic muscle pathology.
掲載誌名	正式名：Brain&development ISSNコード：03877604
出版社	ELSEVIER SCIENCE BV
巻・号・頁	28(1),63-6頁
著者・共著者	Seigo Korematsu,Kazuhide Imai,Keisuke Sato,Tomoki Maeda,Souichi Suenobu,Masanobu Kojo,Tatsuro Izumi
発行年月	2006/01
概要	We report two male siblings presenting with severe hypotonia, generalized muscle atrophy, multiple joint contractures and respiratory failure. The serum creatine kinase levels were within normal limits, 75 IU/l in the younger boy and 123 IU/l in the older one. Muscle biopsies at the age of 28 days in the younger boy and 48 days in the older one revealed dystrophic pathology with increased interstitial fibrous tissue, scattered basophilic fibers and an increased number of undeveloped type-2C fibers. Although the elder brother died from respiratory failure at 4 months of age, the younger child has been sustained with mechanical ventilation, and has been exhibiting non-progressive muscle symptoms. Upon re-biopsy of the younger sibling at the age of 3 years, neither basophilic regenerating fibers nor degenerating fibers were found. All muscle fibers were found to be extremely atrophic and behaved mostly like type-1 fibers, displaying the features of congenital neuromuscular disease with uniform type-1 fibers. Since early biopsies in congenital myopathies reveal numerous undifferentiated immature muscle fibers, it is difficult to make a definite diagnosis, unless we recognize disease-sp
DOI	10.1016/j.braindev.2005.04.007
NAID	10017319327
PMID	16168598