Novel mutation in the membrane metalloendopeptidase gene in a patient with the autosomal recessive form of Charcot–Marie

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Novel mutation in the membrane metalloendopeptidase gene in a patient with the autosomal recessive form of Charcot–Marie–Tooth disease

Published:2017-06-20 Issue:4 Volume:5 Page:124-126
ISSN:2049-4173
Container-title:Neurology and Clinical Neuroscience
language:en
Short-container-title:Neurology & Clinical Neurosc

Author:

Ishiura Hiroyuki¹^ORCID,Mitsui Jun¹^ORCID,Yoshimura Jun²,Doi Koichiro²,Morishita Shinichi²,Hamada Masashi¹,Goto Jun³,Tsuji Shoji¹

Affiliation:

1. Department of Neurology Graduate School of Frontier Sciences The University of Tokyo Tokyo Japan

2. Department of Computational Biology and Medical Sciences Graduate School of Frontier Sciences The University of Tokyo Tokyo Japan

3. Department of Neurology International University of Health and Welfare Mita Hospital Tokyo Japan

Funder

Japan Agency for Medical Research and Development

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://pericles-gcp.literatumonline.com/doi/pdf/10.1111/ncn3.12126

Reference6 articles.

1. THE CLINICAL FEATURES OF HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPES I AND II

2. Hereditary motor and sensory neuropathies or Charcot–Marie–Tooth diseases: An update

3. Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies

4. Mutations in MME cause an autosomal‐recessive Charcot–Marie–Tooth disease type 2

5. Exome analysis reveals a Japanese family with spinocerebellar ataxia, autosomal recessive 1

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