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Distal Motor Neuropathy with Pyramidal Involvement and Optic Atrophy: Think of C12orf65 Mutation as a Possible Cause.

作者信息

Mustafa Farsana, Sana ThobiAshem, Parihar Jasmine, Singh Rajesh Kumar, Vibha Deepti, Tripathi Manjari, Das Animesh

机构信息

Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.

出版信息

Ann Indian Acad Neurol. 2025 Mar 1;28(2):304-306. doi: 10.4103/aian.aian_952_24. Epub 2025 Mar 25.

DOI:10.4103/aian.aian_952_24
PMID:40134308
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12049218/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4758/12049218/2790a3af8165/AIAN-28-304-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4758/12049218/821f169480b2/AIAN-28-304-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4758/12049218/2c4097485b37/AIAN-28-304-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4758/12049218/2790a3af8165/AIAN-28-304-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4758/12049218/821f169480b2/AIAN-28-304-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4758/12049218/2c4097485b37/AIAN-28-304-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4758/12049218/2790a3af8165/AIAN-28-304-g003.jpg

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Distal Motor Neuropathy with Pyramidal Involvement and Optic Atrophy: Think of C12orf65 Mutation as a Possible Cause.伴有锥体束受累及视神经萎缩的远端运动神经病：应考虑C12orf65突变可能为病因。
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本文引用的文献

1
Concurrent OPA1 mutation and chromosome 3q deletion leading to Behr syndrome: a case report.并发 OPA1 突变和 3q 染色体缺失导致 Behr 综合征：病例报告。
BMC Pediatr. 2020 Sep 3;20(1):420. doi: 10.1186/s12887-020-02309-0.
2
Leigh syndrome in a patient with a novel C12orf65 pathogenic variant: case report and literature review.一名携带新型C12orf65致病变异的患者患 Leigh 综合征：病例报告及文献综述
Genet Mol Biol. 2020 May 29;43(2):e20180271. doi: 10.1590/1678-4685-GMB-2018-0271. eCollection 2020.
3
Genetic heterogeneity of motor neuropathies.
运动神经病的遗传异质性。
Neurology. 2017 Mar 28;88(13):1226-1234. doi: 10.1212/WNL.0000000000003772. Epub 2017 Mar 1.
4
Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the Gene.贝赫综合征通常与线粒体翻译紊乱及该基因的突变有关。
J Neuromuscul Dis. 2014;1(1):55-63. doi: 10.3233/JND-140003.
5
Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy.C12orf65 基因突变导致的轴索性神经病伴视神经萎缩
J Neurol Neurosurg Psychiatry. 2014 May;85(5):486-92. doi: 10.1136/jnnp-2013-306387. Epub 2013 Nov 6.
6
Heterozygous OPA1 mutations in Behr syndrome.贝赫综合征中的杂合型OPA1突变。
Brain. 2011 Apr;134(Pt 4):e169; author reply e170. doi: 10.1093/brain/awq306. Epub 2010 Nov 26.
7
Behr's syndrome. A family exhibiting pseudodominant inheritance.贝赫综合征。一个呈现假显性遗传的家族。
J Neurol Sci. 1984 May;64(2):137-48. doi: 10.1016/0022-510x(84)90032-7.