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JAMA Neurol：神经肌病患者TTN突变意义研究

2018-02-13 zhangfan MedSci原创

神经肌病TTN肌营养不良
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研究人员认为目前对于TTN突变的认识很不充分，未来临床表型、DNA、RNA以及蛋白层面的全面研究将为我们认知该疾病提供方向

Titin基因(TTN)突变可引起一系列遗传病，近日研究人员就TTN导致的神经肌肉病进行了研究。

研究招募了9名TTN突变患者以及4名疑似TTM突变患者。患者接受DNA序列研究、肌营养不良、先天性肌病或其他骨骼肌疾病检查。研究的主要终点是考察新TTN基因突变型以及新的TTN基因突变症状。

9名突变患者中，男性5人，平均年龄25岁；4名疑似患者中，男性3人，2人患先天性肌病和2人在20年后缓慢进展为远端肌病。未发现新的突变类型。对患者家族谱进行临床以及分子水平评估后，研究人员认为杂合子截短变异体或独特的错义突变检测不能对TTN基因突变症状做出完整诊断。

研究人员认为目前对于TTN突变的认识很不充分，未来临床表型、DNA、RNA以及蛋白层面的全面研究将为我们认知该疾病提供方向。

原始出处：

Marco Savarese et al. Interpreting Genetic Variants in Titin in Patients With Muscle Disorders. JAMA Neurol. February 12， 2018.

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    2018-04-19 cy0324

    #TTN#

    0

  2. [GetPortalCommentsPageByObjectIdResponse(id=2042035, encodeId=2bb12042035a9, content=<a href='/topic/show?id=99201e91044' target=_blank style='color:#2F92EE;'>#TTN#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=32, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=17910, encryptionId=99201e91044, topicName=TTN)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=63a4277, createdName=cy0324, createdTime=Thu Apr 19 21:18:00 CST 2018, time=2018-04-19, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=2000316, encodeId=025b20003164d, content=<a href='/topic/show?id=d5df12695e6' target=_blank style='color:#2F92EE;'>#Neurol#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=37, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=12695, encryptionId=d5df12695e6, topicName=Neurol)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=8217292, createdName=yinhl1978, createdTime=Wed Mar 21 16:18:00 CST 2018, time=2018-03-21, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1622308, encodeId=ff0b162230862, content=<a href='/topic/show?id=b9578094833' target=_blank style='color:#2F92EE;'>#肌病#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=36, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=80948, encryptionId=b9578094833, topicName=肌病)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=395f25, createdName=爆笑小医, createdTime=Thu Feb 15 01:18:00 CST 2018, time=2018-02-15, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=287661, encodeId=578928e6616a, content=学习一下很不错, beContent=null, objectType=article, channel=null, level=null, likeNumber=57, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mONcle9pic3zMoyicyo6ia9f4IuLQAwZoxD6Hx4ibd5CMcOCYhStY6oDibbKK6O2X8iaicldO5ib8j1iapOIobIKCGiczU2A/0, createdBy=56251941490, createdName=虈亣靌, createdTime=Tue Feb 13 18:32:32 CST 2018, time=2018-02-13, status=1, ipAttribution=)]
    2018-03-21 yinhl1978

    #Neurol#

    0

  3. [GetPortalCommentsPageByObjectIdResponse(id=2042035, encodeId=2bb12042035a9, content=<a href='/topic/show?id=99201e91044' target=_blank style='color:#2F92EE;'>#TTN#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=32, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=17910, encryptionId=99201e91044, topicName=TTN)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=63a4277, createdName=cy0324, createdTime=Thu Apr 19 21:18:00 CST 2018, time=2018-04-19, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=2000316, encodeId=025b20003164d, content=<a href='/topic/show?id=d5df12695e6' target=_blank style='color:#2F92EE;'>#Neurol#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=37, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=12695, encryptionId=d5df12695e6, topicName=Neurol)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=8217292, createdName=yinhl1978, createdTime=Wed Mar 21 16:18:00 CST 2018, time=2018-03-21, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1622308, encodeId=ff0b162230862, content=<a href='/topic/show?id=b9578094833' target=_blank style='color:#2F92EE;'>#肌病#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=36, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=80948, encryptionId=b9578094833, topicName=肌病)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=395f25, createdName=爆笑小医, createdTime=Thu Feb 15 01:18:00 CST 2018, time=2018-02-15, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=287661, encodeId=578928e6616a, content=学习一下很不错, beContent=null, objectType=article, channel=null, level=null, likeNumber=57, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mONcle9pic3zMoyicyo6ia9f4IuLQAwZoxD6Hx4ibd5CMcOCYhStY6oDibbKK6O2X8iaicldO5ib8j1iapOIobIKCGiczU2A/0, createdBy=56251941490, createdName=虈亣靌, createdTime=Tue Feb 13 18:32:32 CST 2018, time=2018-02-13, status=1, ipAttribution=)]
    2018-02-15 爆笑小医

    #肌病#

    0

  4. [GetPortalCommentsPageByObjectIdResponse(id=2042035, encodeId=2bb12042035a9, content=<a href='/topic/show?id=99201e91044' target=_blank style='color:#2F92EE;'>#TTN#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=32, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=17910, encryptionId=99201e91044, topicName=TTN)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=63a4277, createdName=cy0324, createdTime=Thu Apr 19 21:18:00 CST 2018, time=2018-04-19, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=2000316, encodeId=025b20003164d, content=<a href='/topic/show?id=d5df12695e6' target=_blank style='color:#2F92EE;'>#Neurol#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=37, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=12695, encryptionId=d5df12695e6, topicName=Neurol)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=8217292, createdName=yinhl1978, createdTime=Wed Mar 21 16:18:00 CST 2018, time=2018-03-21, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1622308, encodeId=ff0b162230862, content=<a href='/topic/show?id=b9578094833' target=_blank style='color:#2F92EE;'>#肌病#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=36, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=80948, encryptionId=b9578094833, topicName=肌病)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=395f25, createdName=爆笑小医, createdTime=Thu Feb 15 01:18:00 CST 2018, time=2018-02-15, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=287661, encodeId=578928e6616a, content=学习一下很不错, beContent=null, objectType=article, channel=null, level=null, likeNumber=57, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mONcle9pic3zMoyicyo6ia9f4IuLQAwZoxD6Hx4ibd5CMcOCYhStY6oDibbKK6O2X8iaicldO5ib8j1iapOIobIKCGiczU2A/0, createdBy=56251941490, createdName=虈亣靌, createdTime=Tue Feb 13 18:32:32 CST 2018, time=2018-02-13, status=1, ipAttribution=)]
    2018-02-13 虈亣靌

    学习一下很不错

    0