Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot–Marie–Tooth neuropathy and a mutation in HSPB1-Reference-Cited by-同舟云学术

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Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot–Marie–Tooth neuropathy and a mutation in HSPB1

Published:2013-08-21 Issue:4 Volume:22 Page:522-527
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Ylikallio Emil,Johari Mridul,Konovalova Svetlana,Moilanen Jukka S,Kiuru-Enari Sari,Auranen Mari,Pajunen Leila,Tyynismaa Henna

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2013190.pdf

Reference20 articles.

1. Szigeti K, Lupski JR : Charcot-Marie-Tooth disease. Eur J Hum Genet 2009; 17: 703–710.

2. Lupski JR, de Oca-Luna RM, Slaugenhaupt S et al: DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 1991; 66: 219–232.

3. Shy ME, Patzko A : Axonal Charcot-Marie-Tooth disease. Curr Opin Neurol 2011; 24: 475–483.

4. Saporta AS, Sottile SL, Miller LJ, Feely SM, Siskind CE, Shy ME : Charcot-Marie-Tooth disease subtypes and genetic testing strategies. Ann Neurol 2011; 69: 22–33.

5. Auranen M, Ylikallio E, Toppila J, Somer M, Kiuru-Enari S, Tyynismaa H : Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland. Neurogenetics 2013; 14: 123–132.

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