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<Case Reports> A boy with multi-minicore disease, a rare case of congenital myopathy in childhood
https://kindai.repo.nii.ac.jp/records/18711
https://kindai.repo.nii.ac.jp/records/18711a8f7e232-ed2d-464a-a882-42d7a81ecab0
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
AA0050842X-20161200-0063.pdf (671.3 kB)
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| Item type | ☆紀要論文 / Departmental Bulletin Paper(1) | |||||||||||||
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| 公開日 | 2017-10-24 | |||||||||||||
| タイトル | ||||||||||||||
| タイトル | <Case Reports> A boy with multi-minicore disease, a rare case of congenital myopathy in childhood | |||||||||||||
| 言語 | en | |||||||||||||
| 著者 |
Yanagida, Hidehiko
× Yanagida, Hidehiko
× Takemura, Tsukasa
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| 言語 | ||||||||||||||
| 言語 | eng | |||||||||||||
| キーワード | ||||||||||||||
| 主題 | congenital myopathy, minicore, multi-minicore disease | |||||||||||||
| 資源タイプ | ||||||||||||||
| 資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||||||||||
| 資源タイプ | departmental bulletin paper | |||||||||||||
| 著者 所属 | ||||||||||||||
| 値 | Department of Pediatrics, Sakai Hospital Kinki University Faculty of Medicine | |||||||||||||
| 著者 所属 | ||||||||||||||
| 値 | Department of Pediatrics, Kinki University Faculty of Medicine | |||||||||||||
| 版 | ||||||||||||||
| 出版タイプ | NA | |||||||||||||
| 出版タイプResource | http://purl.org/coar/version/c_be7fb7dd8ff6fe43 | |||||||||||||
| 出版者 名前 | ||||||||||||||
| 出版者 | Kindai University Medical Association | |||||||||||||
| 書誌情報 |
en : ACTA MEDICA KINDAI UNIVERSITY 巻 41, 号 2, p. 63-65, 発行日 2016-12 |
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| ISSN | ||||||||||||||
| 収録物識別子タイプ | ISSN | |||||||||||||
| 収録物識別子 | 03866092 | |||||||||||||
| 抄録 | ||||||||||||||
| 内容記述タイプ | Abstract | |||||||||||||
| 内容記述 | [Abstract] We encountered a boy with multi-minicore disease showing marked funnel chest deformity. Inspiratory retraction accompanied by hypotonic muscle led to the discovery of his disease. A definite diagnosis was made by muscle histologic evaluation characterized by excessive variation in the fiber size within muscle fascicles as well as some centronuclear fibers in addition to specific staining methods for muscle fibers.This type of congenital myopathy is rare in childhoods; thus, it may sometimes be misdiagnosed as congenital cerebral palsy on a simple physical check. Therefore, muscle biopsy is important for the accurate diagnosis of this disease. | |||||||||||||
