{"title":"由致病性纯合c.1897delG (p.Ala633Profs * 12)突变引起的charcottal - marie - tooth病4c型","authors":"Fatih Kurt, M. Doğan, R. Eroz","doi":"10.37515/pediatric.5887.4301","DOIUrl":null,"url":null,"abstract":"Charcot-Marie-Tooth (CMT) is a group of diseases with peripheral nerve involvement known as hereditary sensory and motor neuropathy (1). It is the most common inherited neuromuscular disorder. CMT usually begins to show symptoms in the first 10 years and 20s. Clinical symptoms are bilateral, symmetrical sensory and motor polyneuropathy. Its diagnosis is based on clinical findings, EMG and molecular genetic tests. Its treatment is symptomatic. In this article, a CMT Type 4c patient with scoliosis, kyphosis, bilateral sensory and motor polyneuropathy and having SH3TC2 mutation, which is very rare in genetic analysis, is presented.","PeriodicalId":448269,"journal":{"name":"Hong Kong Journal of Paediatrics Research","volume":"1 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2021-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Charcott-Marie-Tooth Disease Type 4c Caused from a Pathogenic Homozygous c.1897delG (p.Ala633Profs * 12) Variation in The SH3TC2 Gene\",\"authors\":\"Fatih Kurt, M. Doğan, R. Eroz\",\"doi\":\"10.37515/pediatric.5887.4301\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Charcot-Marie-Tooth (CMT) is a group of diseases with peripheral nerve involvement known as hereditary sensory and motor neuropathy (1). It is the most common inherited neuromuscular disorder. CMT usually begins to show symptoms in the first 10 years and 20s. Clinical symptoms are bilateral, symmetrical sensory and motor polyneuropathy. Its diagnosis is based on clinical findings, EMG and molecular genetic tests. Its treatment is symptomatic. In this article, a CMT Type 4c patient with scoliosis, kyphosis, bilateral sensory and motor polyneuropathy and having SH3TC2 mutation, which is very rare in genetic analysis, is presented.\",\"PeriodicalId\":448269,\"journal\":{\"name\":\"Hong Kong Journal of Paediatrics Research\",\"volume\":\"1 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2021-12-30\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Hong Kong Journal of Paediatrics Research\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.37515/pediatric.5887.4301\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Hong Kong Journal of Paediatrics Research","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.37515/pediatric.5887.4301","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Charcott-Marie-Tooth Disease Type 4c Caused from a Pathogenic Homozygous c.1897delG (p.Ala633Profs * 12) Variation in The SH3TC2 Gene
Charcot-Marie-Tooth (CMT) is a group of diseases with peripheral nerve involvement known as hereditary sensory and motor neuropathy (1). It is the most common inherited neuromuscular disorder. CMT usually begins to show symptoms in the first 10 years and 20s. Clinical symptoms are bilateral, symmetrical sensory and motor polyneuropathy. Its diagnosis is based on clinical findings, EMG and molecular genetic tests. Its treatment is symptomatic. In this article, a CMT Type 4c patient with scoliosis, kyphosis, bilateral sensory and motor polyneuropathy and having SH3TC2 mutation, which is very rare in genetic analysis, is presented.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
