Novel SPEG variant cause centronuclear myopathy in China-Reference-Cited by-同舟云学术

Novel SPEG variant cause centronuclear myopathy in China

Published:2019-10-18 Issue:2 Volume:34 Page:
ISSN:0887-8013
Container-title:Journal of Clinical Laboratory Analysis
language:en
Short-container-title:J Clin Lab Anal

Author:

Tang Jia¹²^ORCID,Ma Wei³,Chen Yangran²,Jiang Runze²,Zeng Qinlong²,Tan Jieliang²,Jiang Hongqing²,Li Qing²,Zhang Victor W.⁴,Wang Jing⁴,Tang Hui¹,Luo Liangping¹

Affiliation:

1. Department of Medical Imaging Center The First Affiliated Hospital of Jinan University Jinan University Guangzhou China

2. Medical Genetics Center Jiangmen Maternity and Child health Care Hospital Jiangmen China

3. Department of Biology School of Basic Medicine Jiamusi University Jiamusi China

4. AmCare Genomics Laboratory International BioIsland Guangzhou China

Funder

National Natural Science Foundation of China-Yunnan Joint Fund

Postdoctoral Science Foundation of Jiangsu Province

Publisher

Wiley

Subject

Microbiology (medical),Biochemistry (medical),Medical Laboratory Technology,Clinical Biochemistry,Public Health, Environmental and Occupational Health,Hematology,Immunology and Allergy

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jcla.23054

Reference26 articles.

1. Congenital Muscular Dystrophies and Myopathies: An Overview and Update

2. Centronuclear Myopathies

3. Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization

4. Mutations in dynamin 2 cause dominant centronuclear myopathy

5. Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy

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