Novel MFN2 Missense Mutation Induces Hereditary Axonal Motor and Sensory Neuropathy in a Saudi Arabian Family

Talal M. Al-Harbi; Sameeb O. Abdulmana; Shahid Bashir; Walid Dridi

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Novel MFN2 Missense Mutation Induces Hereditary Axonal Motor and Sensory Neuropathy in a Saudi Arabian Family

机译：新型MFN2畸打突变在沙特阿拉伯家庭中诱导遗传性轴承轴承和感官神经病变

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Hereditary axonal motor and sensory neuropathy or Charcot-Marie-Tooth type 2 (CMT2) is a common inherited peripheral neuropathy. Major symptomatologic signs vary from minimal to significant weakness and loss of sensation, feet usually affected more than hands. It may also cause visual acuity impairment, hearing loss, and skeletal deformity. CMT2 classification is based on the clinical, electrophysiological, and genetic inheritance pattern. Dominant CMT2 is classified from CMT2A to CMT2N and recessive CMT2 into CMT2B1 and CMT2B2. CMT2A is the most frequent subtype of CMT2 and caused by mutations in the mitofusin 2 (MFN2) gene. We hereby report a Saudi Arabian CMT2A patient with a variant C.58OT of the MFN2 gene mutation.

机译：遗传性轴突电机和感官神经病变或Charcot-Marie-Tooth型2（CMT2）是常见的遗传外周神经病变。主要的症状迹象从最小的弱点和感觉丧失的最小症状，脚通常不仅影响。它也可能导致视力损害，听力损失和骨骼畸形。 CMT2分类基于临床，电生理和遗传遗传模式。主导CMT2从CMT2a到CMT2N和隐性CMT2分为CMT2B1和CMT2B2。 CMT2A是CMT2中最常见的亚型，由MITOFUSIN 2（MFN2）基因中的突变引起。我们特此向沙特阿拉伯CMT2A患者报告用MFN2基因突变的变体C.52患者。

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来源
《Journal of clinical neuromuscular disease》 |2019年第1期|共5页
作者
Talal M. Al-Harbi; Sameeb O. Abdulmana; Shahid Bashir; Walid Dridi;
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作者单位

Neurology Department Neuroscience Center KFSD Dammam Saudi Arabia;

and fGenetic Molecular;

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原文格式 PDF
正文语种 eng
中图分类神经病学;
关键词
CMT disease; axonal neuropathy and MFN2 gene mutation; HMSN; pathogenic variants; gene panel;

机译：CMT病;轴突神经病变和MFN2基因突变;HMSN;致病变异;基因面板;

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1. Novel MFN2 Missense Mutation Induces Hereditary Axonal Motor and Sensory Neuropathy in a Saudi Arabian Family [J] . Talal M. Al-Harbi, Sameeb O. Abdulmana, Shahid Bashir, Journal of clinical neuromuscular disease . 2019,第1期

机译：新型MFN2畸打突变在沙特阿拉伯家庭中诱导遗传性轴承轴承和感官神经病变
2. Histopathological findings in hereditary motor and sensory neuropathy of axonal type with onset in early childhood associated with mitofusin 2 mutations. [J] . Vallat JM, Ouvrier RA, Pollard JD, Journal of Neuropathology and Experimental Neurology: Official Journal of the American Association of Neuropathologists, Inc . 2008,第11期

机译：在儿童早期发作的线粒体型遗传性运动和感觉神经病的组织病理学发现与mitofusin 2突变有关。
3. COX6A1 mutation causes axonal hereditary motor and sensory neuropathy - the confirmation of the primary report [J] . Lassuthova P., Beharka R., Krutova M., Clinical Genetics: An International Journal of Genetics in Medicine . 2016,第4期

机译：COX6A1突变导致轴突遗传性运动和感觉神经病-主要报告的证实
4. HEREDITARY AMYLOIDOSIS IN A SPANISH FAMILY ASSOCIATED WITH A NOVEL NONSTOP MUTATION IN THE GENE FOR APOL1POPROTEIN All [C] . D. Rowczenio, J.A. Gilbertson, A. Bybee, International Symposium on Amyloidosis . 2005

机译：西班牙家庭的遗传性淀粉样蛋白病与Apol1poprotein基因中的一种新的非级别突变相关
5. The effects of mutant Schwann cells on the axonal cytoskeleton and regeneration-associated myelination in hereditary neuropathies: Studies on nerve xenografts. [D] . Sahenk, Zarife. 1998

机译：突变的雪旺细胞对遗传性神经病中轴突细胞骨架和再生相关的髓鞘形成的影响：神经异种移植的研究。
6. Novel mutation in the myelin protein zero gene in a family withintermediate hereditary motor and sensory neuropathy [O] . F Mastaglia, K Nowak, R Stell, 1999

机译：家族中髓鞘蛋白零基因的新突变。中度遗传性运动和感觉神经病
7. A Novel Mutation in the MFN2 Gene Associated with Hereditary Sensory and Motor Neuropathy with Proximal Predominance (HMSN-P)- A Case Report [O] . Hettiaracchchi D, Weththasigha K, Nethikumara N, 2018

机译：与遗传性感官和近端优势的遗传性感官和运动神经病变相关的MFN2基因的一种新突变（HMSN-P） - 案例报告

Novel MFN2 Missense Mutation Induces Hereditary Axonal Motor and Sensory Neuropathy in a Saudi Arabian Family

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