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July 28, 2015; 85 (4) Clinical/Scientific Notes

Recessive hereditary motor and sensory neuropathy caused by IGHMBP2 gene mutation

Chang-he Shi, Bo Song, Hai-yang Luo, Cheng-yuan Mao, Dan-dan Shang, Yuan Cao, Shi-lei Sun, Jun Wu, Zheng-ping Zhuang, Yu-ming Xu
First published July 1, 2015, DOI: https://doi.org/10.1212/WNL.0000000000001747
Chang-he Shi
From the Department of Neurology (C-h.S., B.S., H-y.L., C-y.M., D-d.S., Y.C., S-l.S., J.W., Y-m.X.), The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China; and Surgical Neurology Branch (Z-p.Z.), National Institute of Neurological Disorders and Stroke, Bethesda, MD.
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Bo Song
From the Department of Neurology (C-h.S., B.S., H-y.L., C-y.M., D-d.S., Y.C., S-l.S., J.W., Y-m.X.), The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China; and Surgical Neurology Branch (Z-p.Z.), National Institute of Neurological Disorders and Stroke, Bethesda, MD.
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Hai-yang Luo
From the Department of Neurology (C-h.S., B.S., H-y.L., C-y.M., D-d.S., Y.C., S-l.S., J.W., Y-m.X.), The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China; and Surgical Neurology Branch (Z-p.Z.), National Institute of Neurological Disorders and Stroke, Bethesda, MD.
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Cheng-yuan Mao
From the Department of Neurology (C-h.S., B.S., H-y.L., C-y.M., D-d.S., Y.C., S-l.S., J.W., Y-m.X.), The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China; and Surgical Neurology Branch (Z-p.Z.), National Institute of Neurological Disorders and Stroke, Bethesda, MD.
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Dan-dan Shang
From the Department of Neurology (C-h.S., B.S., H-y.L., C-y.M., D-d.S., Y.C., S-l.S., J.W., Y-m.X.), The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China; and Surgical Neurology Branch (Z-p.Z.), National Institute of Neurological Disorders and Stroke, Bethesda, MD.
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Yuan Cao
From the Department of Neurology (C-h.S., B.S., H-y.L., C-y.M., D-d.S., Y.C., S-l.S., J.W., Y-m.X.), The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China; and Surgical Neurology Branch (Z-p.Z.), National Institute of Neurological Disorders and Stroke, Bethesda, MD.
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Shi-lei Sun
From the Department of Neurology (C-h.S., B.S., H-y.L., C-y.M., D-d.S., Y.C., S-l.S., J.W., Y-m.X.), The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China; and Surgical Neurology Branch (Z-p.Z.), National Institute of Neurological Disorders and Stroke, Bethesda, MD.
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Jun Wu
From the Department of Neurology (C-h.S., B.S., H-y.L., C-y.M., D-d.S., Y.C., S-l.S., J.W., Y-m.X.), The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China; and Surgical Neurology Branch (Z-p.Z.), National Institute of Neurological Disorders and Stroke, Bethesda, MD.
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Zheng-ping Zhuang
From the Department of Neurology (C-h.S., B.S., H-y.L., C-y.M., D-d.S., Y.C., S-l.S., J.W., Y-m.X.), The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China; and Surgical Neurology Branch (Z-p.Z.), National Institute of Neurological Disorders and Stroke, Bethesda, MD.
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Yu-ming Xu
From the Department of Neurology (C-h.S., B.S., H-y.L., C-y.M., D-d.S., Y.C., S-l.S., J.W., Y-m.X.), The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China; and Surgical Neurology Branch (Z-p.Z.), National Institute of Neurological Disorders and Stroke, Bethesda, MD.
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Citation
Recessive hereditary motor and sensory neuropathy caused by IGHMBP2 gene mutation
Chang-he Shi, Bo Song, Hai-yang Luo, Cheng-yuan Mao, Dan-dan Shang, Yuan Cao, Shi-lei Sun, Jun Wu, Zheng-ping Zhuang, Yu-ming Xu
Neurology Jul 2015, 85 (4) 383-384; DOI: 10.1212/WNL.0000000000001747

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Hereditary motor and sensory neuropathy (HMSN), also known as Charcot-Marie-Tooth disease (CMT), is a genetically heterogeneous disorder that affects both sensory and motor peripheral nerves. HMSN is characterized by distal and symmetric muscle atrophy in the lower limbs and hands, foot abnormalities, and distal sensory loss. It is associated with more than 50 causative genes or loci; however, the genetic cause remains undetermined in almost 50% of HMSN cases.1,2

Acknowledgments

Acknowledgment: The authors thank the family for their participation in this study.

Footnotes

  • Supplemental data at Neurology.org

  • Author contributions: Study conception, design, and organization: Shi, Song, and Xu. Acquisition of data: Shi, Luo, Mao, Shang, Cao, and Xu. Analysis and interpretation of data: Shi, Song, Sun, Wu, Zhuang, and Xu. Drafting of the manuscript: Shi, Luo, and Xu. Obtaining funding: Shi and Xu. Administrative, technical, and material support: Shi, Luo, Mao, Shang, and Cao. Study supervision: Shi, Song, Sun, and Xu.

  • Study funding: This work was supported by grant 81471158 from the National Natural Science Foundation of China (to Dr. Yu-ming Xu) and grant U1404311 from the National Natural Science Foundation of China (to Dr. Chang-he Shi).

  • Disclosure: The authors report no disclosures relevant to the manuscript. Go to Neurology.org for full disclosures.

  • Received January 8, 2015.
  • Accepted in final form March 26, 2015.
  • © 2015 American Academy of Neurology
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