Identification of a Novel Homozygous <i>SPG7</i> Mutation in a Japanese Patient with Spastic Ataxia: Making an Efficient Diagnosis Using Exome Sequencing for Autosomal Recessive Cerebellar Ataxia and Spastic Paraplegia-Reference-Cited by-同舟云学术

Identification of a Novel Homozygous SPG7 Mutation in a Japanese Patient with Spastic Ataxia: Making an Efficient Diagnosis Using Exome Sequencing for Autosomal Recessive Cerebellar Ataxia and Spastic Paraplegia

Published:2013 Issue:14 Volume:52 Page:1629-1633
ISSN:0918-2918
Container-title:Internal Medicine
language:en
Short-container-title:Intern. Med.

Author:

Doi Hiroshi¹²,Ohba Chihiro¹²,Tsurusaki Yoshinori¹,Miyatake Satoko¹,Miyake Noriko¹,Saitsu Hirotomo¹,Kawamoto Yuko²,Yoshida Tamaki²,Koyano Shigeru²,Suzuki Yume²,Kuroiwa Yoshiyuki²,Tanaka Fumiaki²,Matsumoto Naomichi¹

Affiliation:

1. Department of Human Genetics, Yokohama City University, Japan

2. Department of Clinical Neurology and Stroke Medicine, Yokohama City University, Japan

Publisher

Japanese Society of Internal Medicine

Subject

General Medicine,Internal Medicine

Link

https://www.jstage.jst.go.jp/article/internalmedicine/52/14/52_52.0252/_pdf

Reference22 articles.

1. 1. Palau F, Espinos C. Autosomal recessive cerebellar ataxias. Orphanet J Rare Dis 1: 47, 2006.

2. 2. Manto M, Marmolino D. Cerebellar ataxias. Curr Opin Neurol 22: 419-429, 2009.