Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variants-Reference-Cited by-同舟云学术

Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variants

Published:2017-04-19 Issue:3 Volume:92 Page:274-280
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Yoshimura A.¹,Yuan J.-H.¹,Hashiguchi A.¹,Hiramatsu Y.¹,Ando M.¹,Higuchi Y.¹,Nakamura T.¹,Okamoto Y.¹,Matsumura K.²,Hamano T.³,Sawaura N.⁴,Shimatani Y.⁵,Kumada S.⁶,Okumura Y.⁷,Miyahara J.⁸,Yamaguchi Y.⁹,Kitamura S.¹⁰,Haginoya K.¹¹,Mitsui J.¹²,Ishiura H.¹²,Tsuji S.¹²,Takashima H.¹

Affiliation:

1. Department of Neurology and Geriatrics; Kagoshima University, Graduate School of Medical and Dental Sciences; Kagoshima Japan

2. Department of Neurology; Teikyo University; Tokyo Japan

3. Department of Neurology; Kansai Electric Power Hospital; Osaka Japan

4. Department of Pediatrics; Gunma University Graduate School of Medicine; Gunma Japan

5. Department of Clinical Neuroscience; Tokushima University Graduate School; Tokushima Japan

6. Department of Neuropediatrics; Tokyo Metropolitan Neurological Hospital; Tokyo Japan

7. Department of Pediatric Neurology; Shizuoka Children's Hospital; Shizuoka Japan

8. Department of Neurology; Tominaga Hospital; Osaka Japan

9. Department of Neurology, Hematology, Metabolism, Endocrinology and Diabetology; Yamagata University Faculty of Medicine; Yamagata Japan

10. Department of Neurology; Konan Hospital; Hyogo Japan

11. Department of Pediatric Neurology; Miyagi Children's Hospital; Miyagi Japan

12. Department of Neurology, Graduate School of Medicine; University of Tokyo; Tokyo Japan

Funder

Nervous and Mental Disorders and Research Committee

Ministry of Health, Welfare and Labour, Japan

Japan Agency for Medical Research and Development

JSPS KAKENHI

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.13002/fullpdf

Reference32 articles.

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2. Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21;Baxter;Nat Genet,2002

3. Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy;Nelis;Neurology,2002

4. Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy;Senderek;Brain,2003

5. Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect;Claramunt;J Med Genet,2005

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