L. Novikova, A. Akopian, K. M. Sharapova, R. F. Latypova, N. Faizullina
{"title":"肌小管x连锁肌病","authors":"L. Novikova, A. Akopian, K. M. Sharapova, R. F. Latypova, N. Faizullina","doi":"10.30629/2658-7947-2023-28-3-44-49","DOIUrl":null,"url":null,"abstract":"Myotubular (centronuclear) myopathy is a rare hereditary disease with primary muscle damage and clinical manifestations of congenital myopathy. The article describes a clinical case of myotubular myopathy in a boy who was observed by us from the age of 2 months to 2 years 5 months. The disease was manifested by muscle weakness, hypotension, respiratory failure, peripheral tetraparesis, bulbar disorders, the need for artificial lung ventilation and probe nutrition.","PeriodicalId":36724,"journal":{"name":"Russian Neurological Journal","volume":" ","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2023-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Myotubular X-linked myopathy\",\"authors\":\"L. Novikova, A. Akopian, K. M. Sharapova, R. F. Latypova, N. Faizullina\",\"doi\":\"10.30629/2658-7947-2023-28-3-44-49\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Myotubular (centronuclear) myopathy is a rare hereditary disease with primary muscle damage and clinical manifestations of congenital myopathy. The article describes a clinical case of myotubular myopathy in a boy who was observed by us from the age of 2 months to 2 years 5 months. The disease was manifested by muscle weakness, hypotension, respiratory failure, peripheral tetraparesis, bulbar disorders, the need for artificial lung ventilation and probe nutrition.\",\"PeriodicalId\":36724,\"journal\":{\"name\":\"Russian Neurological Journal\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-07-19\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Russian Neurological Journal\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.30629/2658-7947-2023-28-3-44-49\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Russian Neurological Journal","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.30629/2658-7947-2023-28-3-44-49","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
Myotubular (centronuclear) myopathy is a rare hereditary disease with primary muscle damage and clinical manifestations of congenital myopathy. The article describes a clinical case of myotubular myopathy in a boy who was observed by us from the age of 2 months to 2 years 5 months. The disease was manifested by muscle weakness, hypotension, respiratory failure, peripheral tetraparesis, bulbar disorders, the need for artificial lung ventilation and probe nutrition.
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