Infantile‐onset CMT2D/dSMA‐V in a Chinese family with parental germline mosaicism for a novel mutation in the GARS1 gene-Reference-Cited by-同舟云学术

Infantile‐onset CMT2D/dSMA‐V in a Chinese family with parental germline mosaicism for a novel mutation in the GARS1 gene

Published:2021-12-12 Issue:1 Volume:10 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Huang Yufeng¹^ORCID,Bi Bo²,Zhao Peiwei¹,Yu Ting¹,Luo Sukun¹,Tan Li¹,Liu Zhisheng²,Liu Jie³,He Xuelian¹^ORCID

Affiliation:

1. Precision Medical Center Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital) Tongji Medical College Huazhong University of Science & Technology Wuhan China

2. Department of Rehabilitation Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital) Tongji Medical College Huazhong University of Science & Technology Wuhan China

3. Department of Gastroenterology Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital) Tongji Medical College Huazhong University of Science & Technology Wuhan China

Funder

Natural Science Foundation of Hubei Province

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1846

Reference14 articles.

1. Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V

2. Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders

3. Glycyl tRNA Synthetase (GARS) Gene Variant Causes Distal Hereditary Motor Neuropathy V

4. Infantile onset CMT2D/dSMA V in monozygotic twins due to a mutation in the anticodon-binding domain of GARS

5. Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D)

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