肢带肌营养不良2G型与肌病-神经源性运动单位电位和一种新的肌肉图像模式。

Q2 Medicine
BMC Clinical Pathology Pub Date : 2014-10-04 eCollection Date: 2014-01-01 DOI:10.1186/1472-6890-14-41
Ana Cotta, Julia Filardi Paim, Antonio Lopes da-Cunha-Junior, Rafael Xavier Neto, Simone Vilela Nunes, Monica Magalhaes Navarro, Jaquelin Valicek, Elmano Carvalho, Lydia U Yamamoto, Camila F Almeida, Shelida Vasconcelos Braz, Reinaldo Issao Takata, Mariz Vainzof
{"title":"肢带肌营养不良2G型与肌病-神经源性运动单位电位和一种新的肌肉图像模式。","authors":"Ana Cotta,&nbsp;Julia Filardi Paim,&nbsp;Antonio Lopes da-Cunha-Junior,&nbsp;Rafael Xavier Neto,&nbsp;Simone Vilela Nunes,&nbsp;Monica Magalhaes Navarro,&nbsp;Jaquelin Valicek,&nbsp;Elmano Carvalho,&nbsp;Lydia U Yamamoto,&nbsp;Camila F Almeida,&nbsp;Shelida Vasconcelos Braz,&nbsp;Reinaldo Issao Takata,&nbsp;Mariz Vainzof","doi":"10.1186/1472-6890-14-41","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Limb girdle muscular dystrophy type 2G (LGMD2G) is a subtype of autosomal recessive muscular dystrophy caused by mutations in the telethonin gene. There are few LGMD2G patients worldwide reported, and this is the first description associated with early tibialis anterior sparing on muscle image and myopathic-neurogenic motor unit potentials.</p><p><strong>Case presentation: </strong>Here we report a 31 years old caucasian male patient with progressive gait disturbance, and severe lower limb proximal weakness since the age of 20 years, associated with subtle facial muscle weakness. Computed tomography demonstrated soleus, medial gastrocnemius, and diffuse thigh muscles involvement with tibialis anterior sparing. Electromyography disclosed both neurogenic and myopathic motor unit potentials. Muscle biopsy demonstrated large groups of atrophic and hypertrophic fibers, frequent fibers with intracytoplasmic rimmed vacuoles full of autophagic membrane and sarcoplasmic debris, and a total deficiency of telethonin. Molecular investigation identified the common homozygous c.157C > T in the TCAP gene.</p><p><strong>Conclusion: </strong>This report expands the phenotypic variability of telethoninopathy/ LGMD2G, including: 1) mixed neurogenic and myopathic motor unit potentials, 2) facial weakness, and 3) tibialis anterior sparing. Appropriate diagnosis in these cases is important for genetic counseling and prognosis.</p>","PeriodicalId":35804,"journal":{"name":"BMC Clinical Pathology","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2014-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/1472-6890-14-41","citationCount":"19","resultStr":"{\"title\":\"Limb girdle muscular dystrophy type 2G with myopathic-neurogenic motor unit potentials and a novel muscle image pattern.\",\"authors\":\"Ana Cotta,&nbsp;Julia Filardi Paim,&nbsp;Antonio Lopes da-Cunha-Junior,&nbsp;Rafael Xavier Neto,&nbsp;Simone Vilela Nunes,&nbsp;Monica Magalhaes Navarro,&nbsp;Jaquelin Valicek,&nbsp;Elmano Carvalho,&nbsp;Lydia U Yamamoto,&nbsp;Camila F Almeida,&nbsp;Shelida Vasconcelos Braz,&nbsp;Reinaldo Issao Takata,&nbsp;Mariz Vainzof\",\"doi\":\"10.1186/1472-6890-14-41\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Limb girdle muscular dystrophy type 2G (LGMD2G) is a subtype of autosomal recessive muscular dystrophy caused by mutations in the telethonin gene. There are few LGMD2G patients worldwide reported, and this is the first description associated with early tibialis anterior sparing on muscle image and myopathic-neurogenic motor unit potentials.</p><p><strong>Case presentation: </strong>Here we report a 31 years old caucasian male patient with progressive gait disturbance, and severe lower limb proximal weakness since the age of 20 years, associated with subtle facial muscle weakness. Computed tomography demonstrated soleus, medial gastrocnemius, and diffuse thigh muscles involvement with tibialis anterior sparing. Electromyography disclosed both neurogenic and myopathic motor unit potentials. Muscle biopsy demonstrated large groups of atrophic and hypertrophic fibers, frequent fibers with intracytoplasmic rimmed vacuoles full of autophagic membrane and sarcoplasmic debris, and a total deficiency of telethonin. Molecular investigation identified the common homozygous c.157C > T in the TCAP gene.</p><p><strong>Conclusion: </strong>This report expands the phenotypic variability of telethoninopathy/ LGMD2G, including: 1) mixed neurogenic and myopathic motor unit potentials, 2) facial weakness, and 3) tibialis anterior sparing. Appropriate diagnosis in these cases is important for genetic counseling and prognosis.</p>\",\"PeriodicalId\":35804,\"journal\":{\"name\":\"BMC Clinical Pathology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2014-10-04\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1186/1472-6890-14-41\",\"citationCount\":\"19\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"BMC Clinical Pathology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1186/1472-6890-14-41\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2014/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q2\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"BMC Clinical Pathology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1186/1472-6890-14-41","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2014/1/1 0:00:00","PubModel":"eCollection","JCR":"Q2","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 19

摘要

背景:肢体带状肌营养不良2G型(LGMD2G)是常染色体隐性隐性肌营养不良的一种亚型,由telethonin基因突变引起。世界范围内报道的LGMD2G患者很少,这是第一个与早期胫骨前肌保留在肌肉图像和肌病-神经源性运动单位电位相关的描述。病例介绍:我们在此报告一位31岁的白人男性患者,自20岁以来,患有进行性步态障碍和严重的下肢近端无力,并伴有轻微的面部肌肉无力。计算机断层扫描显示比目鱼肌、腓肠肌内侧和弥漫性大腿肌肉受累,胫前肌保留。肌电图显示神经源性和肌病性运动单位电位。肌肉活检显示有大量萎缩和肥厚纤维,胞浆内纤维常伴充满自噬膜和肌浆碎片的边缘空泡,并且完全缺乏拉索蛋白。分子分析鉴定出TCAP基因的共同纯合子c.157C > T。结论:本报告扩大了遥索病/ LGMD2G的表型变异性,包括:1)混合神经源性和肌病性运动单位电位,2)面部无力,3)胫骨前肌保留。在这些情况下,适当的诊断是重要的遗传咨询和预后。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Limb girdle muscular dystrophy type 2G with myopathic-neurogenic motor unit potentials and a novel muscle image pattern.

Limb girdle muscular dystrophy type 2G with myopathic-neurogenic motor unit potentials and a novel muscle image pattern.

Limb girdle muscular dystrophy type 2G with myopathic-neurogenic motor unit potentials and a novel muscle image pattern.

Background: Limb girdle muscular dystrophy type 2G (LGMD2G) is a subtype of autosomal recessive muscular dystrophy caused by mutations in the telethonin gene. There are few LGMD2G patients worldwide reported, and this is the first description associated with early tibialis anterior sparing on muscle image and myopathic-neurogenic motor unit potentials.

Case presentation: Here we report a 31 years old caucasian male patient with progressive gait disturbance, and severe lower limb proximal weakness since the age of 20 years, associated with subtle facial muscle weakness. Computed tomography demonstrated soleus, medial gastrocnemius, and diffuse thigh muscles involvement with tibialis anterior sparing. Electromyography disclosed both neurogenic and myopathic motor unit potentials. Muscle biopsy demonstrated large groups of atrophic and hypertrophic fibers, frequent fibers with intracytoplasmic rimmed vacuoles full of autophagic membrane and sarcoplasmic debris, and a total deficiency of telethonin. Molecular investigation identified the common homozygous c.157C > T in the TCAP gene.

Conclusion: This report expands the phenotypic variability of telethoninopathy/ LGMD2G, including: 1) mixed neurogenic and myopathic motor unit potentials, 2) facial weakness, and 3) tibialis anterior sparing. Appropriate diagnosis in these cases is important for genetic counseling and prognosis.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
BMC Clinical Pathology
BMC Clinical Pathology Medicine-Pathology and Forensic Medicine
CiteScore
3.30
自引率
0.00%
发文量
0
期刊介绍: BMC Clinical Pathology is an open access journal publishing original peer-reviewed research articles in all aspects of histopathology, haematology, clinical biochemistry, and medical microbiology (including virology, parasitology, and infection control). BMC Clinical Pathology (ISSN 1472-6890) is indexed/tracked/covered by PubMed, CAS, EMBASE, Scopus and Google Scholar.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信