Peripheral neuropathy in genetically characterized patients with mitochondrial disorders: A study from south India
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- 作者：Parayil Sankaran Bindua ; drpsbindu@yahoo.co.in" class="auth_mail" title="E-mail the corresponding author ; Chikanna Govindarajua ; drgobiraj76@yahoo.com" class="auth_mail" title="E-mail the corresponding author ; Kothari Sonamb ; sonamkothari86@yahoo.com" class="auth_mail" title="E-mail the corresponding author ; Madhu Nagappaa ; madhu_nagappa@yahoo.co.in" class="auth_mail" title="E-mail the corresponding author ; Shwetha Chiplunkarb ; shwetha.chiplunkar@gmail.com" class="auth_mail" title="E-mail the corresponding author ; Rakesh Kumara ; rockyroyal1999@gmail.com" class="auth_mail" title="E-mail the corresponding author ; Narayanappa Gayathric ; gayathrin12@rediffmail.com" class="auth_mail" title="E-mail the corresponding author ; MM Srinivas Bharathd ; thathachar@rediffmail.com" class="auth_mail" title="E-mail the corresponding author ; Hanumanthapura R. Arvindae ; Sanjib Sinhaa ; sanjib_sinha2004@yahoo.co.in" class="auth_mail" title="E-mail the corresponding author ; Nahid Akthar Khanf ; nahid.ibu@gmail.com" class="auth_mail" title="E-mail the corresponding author ; Periyasamy Govindarajf ; pgovinth@gmail.com" class="auth_mail" title="E-mail the corresponding author ; Vandana Nuniaf ; vandananunia@gmail.com" class="auth_mail" title="E-mail the corresponding author ; Arumugam Paramasivamf ; paramasivam@ccmb.res.in" class="auth_mail" title="E-mail the corresponding author ; Kumarasamy Thangarajf ; thangs@ccmb.res.in" class="auth_mail" title="E-mail the corresponding author ; Arun B. Talya ; abtaly@yahoo.com" class="auth_mail" title="E-mail the corresponding author
- 关键词：Peripheral neuropathy ; Mitochondrial neuropathy ; SURF1 ; POLG1 ; and MTATP6
- 刊名：Mitochondrion
- 出版年：2016
- 出版时间：March 2016
- 年：2016
- 卷：27
- 期：Complete
- 页码：1-5
- 全文大小：328 K
文摘
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Peripheral neuropathy in 18 patients with mitochondrial disorders were reviewed.
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Patients were grouped into those with mutations in mitochondrial DNA, SURF1 & POLG1.
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Patients with mitochondrial point mutations, predominantly had axonal neuropathy.
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Patients with SURF1 mutations had demyelinating neuropathy
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Two of the three patients with POLG1 mutation had sensory ataxic neuropathy.