Peripheral neuropathy in genetically characterized patients with mitochondrial disorders: A study from south India

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• 作者：Parayil Sankaran Bindu^a ; ^{drpsbindu@yahoo.co.in" class="auth_mail" title="E-mail the corresponding author} ; Chikanna Govindaraju^a ; ^{drgobiraj76@yahoo.com" class="auth_mail" title="E-mail the corresponding author} ; Kothari Sonam^b ; ^{sonamkothari86@yahoo.com" class="auth_mail" title="E-mail the corresponding author} ; Madhu Nagappa^a ; ^{madhu_nagappa@yahoo.co.in" class="auth_mail" title="E-mail the corresponding author} ; Shwetha Chiplunkar^b ; ^{shwetha.chiplunkar@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Rakesh Kumar^a ; ^{rockyroyal1999@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Narayanappa Gayathri^c ; ^{gayathrin12@rediffmail.com" class="auth_mail" title="E-mail the corresponding author} ; MM Srinivas Bharath^d ; ^{thathachar@rediffmail.com" class="auth_mail" title="E-mail the corresponding author} ; Hanumanthapura R. Arvinda^e ; Sanjib Sinha^a ; ^{sanjib_sinha2004@yahoo.co.in" class="auth_mail" title="E-mail the corresponding author} ; Nahid Akthar Khan^f ; ^{nahid.ibu@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Periyasamy Govindaraj^f ; ^{pgovinth@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Vandana Nunia^f ; ^{vandananunia@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Arumugam Paramasivam^f ; ^{paramasivam@ccmb.res.in" class="auth_mail" title="E-mail the corresponding author} ; Kumarasamy Thangaraj^f ; ^{thangs@ccmb.res.in" class="auth_mail" title="E-mail the corresponding author} ; Arun B. Taly^a ; ^{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

<dl class="listitem" id="list_l0005"><dt class="label">•dt><dd>

d="p0005">Peripheral neuropathy in 18 patients with mitochondrial disorders were reviewed.

dd><dt class="label">•dt><dd>

d="p0010">Patients were grouped into those with mutations in mitochondrial DNA, SURF1 & POLG1.

dd><dt class="label">•dt><dd>

d="p0015">Patients with mitochondrial point mutations, predominantly had axonal neuropathy.

dd><dt class="label">•dt><dd>

d="p0020">Patients with SURF1 mutations had demyelinating neuropathy

dd><dt class="label">•dt><dd>

d="p0025">Two of the three patients with POLG1 mutation had sensory ataxic neuropathy.

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