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Next generation sequencing reveals ryanodine receptor 1 mutations in a Chinese central core disease cohort

  • Published:2016-05-25 Issue:3 Volume:54 Page:432-438
  • ISSN:0148-639X
  • Container-title:Muscle & Nerve
  • language:en
  • Short-container-title:Muscle Nerve

Author:

Zhao Yan1,Hu Jing1,Zhao Zhe1,Shen Hongrui1,Bing Qi1,Li Nan1

Affiliation:

1. Department of Neuromuscular Disease; Third Hospital of Hebei Medical University; 139 Ziqiang Road Shijiazhuang City Hebei Province 050051 PR China

Publisher

Wiley

Subject

Physiology (medical),Cellular and Molecular Neuroscience,Neurology (clinical),Physiology

Reference34 articles.

1. A new congenital non-progressive myopathy;Magee;Brain,1956

2. Central core disease;Jungbluth;Orphanet J Rare Dis,2007

3. Autosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 gene;Romero;J Neurol Neurosurg Psychiatry,2014

4. Clinical utility gene card for: Central core disease;Lillis;Eur J Hum Genet,2012

5. Central core disease is due to RYR1 mutations in more than 90% of patients;Wu;Brain,2006

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