Phe 84 deletion of the PMP22 gene associated with hereditary motor and sensory neuropathy HMSN III with multiple cranial neuropathy: clinical, neurophysiological and magnetic resonance imaging findings.

Yener GG; Guiochon-Mantel A; Obuz F; Baklan B; Ozturk V; Kovanlikaya I; Cakmur R; Genc A

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Phe 84 deletion of the PMP22 gene associated with hereditary motor and sensory neuropathy HMSN III with multiple cranial neuropathy: clinical, neurophysiological and magnetic resonance imaging findings.

机译：与遗传性运动和感觉神经病HMSN III相关的PMP 84基因Phe 84缺失与多发性颅神经病：临床，神经生理学和磁共振成像发现。

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Hereditary motor and sensory neuropathy (HMSN) is a heterogeneous group of peripheral neuropathies which are diagnosed on the basis of clinical, electrophysiological and neuropathological findings. Among the hypertrophic demyelinating neuropathies, HMSN III is the most severe. It is often associated with de novo mutations in the genes encoding for peripheral myelin proteins. While peripheral nerve hypertrophy is an expected finding in HMSN III, cranial nerve hypertrophy is exceptional. Here we describe a mutation in the PMP22 gene in a 19-year-old man with infantile onset of sensory motor polyneuropathy without family history and multiple cranial nerve hypertrophy shown by cranial magnetic resonance imaging.

机译：遗传性运动和感觉神经病（HMSN）是周围神经病的异类，可根据临床，电生理和神经病理学发现进行诊断。在肥厚性脱髓鞘性神经病中，HMSN III最严重。它通常与周围髓鞘蛋白编码基因的从头突变有关。虽然在HMSN III中可以发现周围神经肥大，但颅神经肥大却是例外。在这里，我们描述了一名19岁男子的小儿PPS22基因突变，该小儿发作的感觉运动性多发性神经病没有家族史，颅脑磁共振成像显示多发性颅神经肥大。

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《Journal of neurology》 |2001年第3期|共4页
作者
Yener GG; Guiochon-Mantel A; Obuz F; Baklan B; Ozturk V; Kovanlikaya I; Cakmur R; Genc A;
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正文语种 eng
中图分类神经病学与精神病学;
关键词
Cranial Nerve Diseases; Hereditary Motor and Sensory Neuropathies genetics; 颅神经疾病; 髓磷脂蛋白质类; 苯丙氨酸; 序列缺失;

机译：Cranial Nerve Diseases;Hereditary Motor and Sensory Neuropathies genetics;颅神经疾病;髓磷脂蛋白质类;苯丙氨酸;序列缺失;

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1. Phe 84 deletion of the PMP22 gene associated with hereditary motor and sensory neuropathy HMSN III with multiple cranial neuropathy: clinical, neurophysiological and magnetic resonance imaging findings. [J] . Yener GG, Guiochon-Mantel A, Obuz F, Journal of neurology . 2001,第3期

机译：与遗传性运动和感觉神经病HMSN III相关的PMP 84基因Phe 84缺失与多发性颅神经病：临床，神经生理学和磁共振成像发现。
2. Identification of a novel SLC12A6 pathogenic variant associated with hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) in a non-French-Canadian family [J] . Rius Rocio, Gonzalez-del Angel Ariadna, Velazquez-Aragon Jose A., Neurology India. . 2018,第4期

机译：鉴定与遗传马达和感官神经病变相关的新型SLC12A6病原变异，具有非法国人（HMSN / ACC）在非法国加拿大家族中的验证
3. Optinurin inclusions in proximal hereditary motor and sensory neuropathy (HMSN-P): familial amyotrophic lateral sclerosis with sensory neuronopathy? [J] . Nakagawa M Journal of Neurology, Neurosurgery and Psychiatry . 2011,第12期

机译：伴有感觉神经元病的家族性肌萎缩性侧索硬化症的近邻遗传性运动和感觉神经病（HMSN-P）中的擎天柱内含物？
4. Central motor conduction in a family with hereditary motor and sensory neuropathy with pyramidal signs (HMSN V). [O] . A Schnider, C W Hess, S Koppi 1991

机译：遗传性运动和具有锥体束征（HMSN V）的感觉神经病的家庭的中枢运动传导。
5. 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

Phe 84 deletion of the PMP22 gene associated with hereditary motor and sensory neuropathy HMSN III with multiple cranial neuropathy: clinical, neurophysiological and magnetic resonance imaging findings.

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