Infantile‐onset CMT2D/dSMA‐V in a Chinese family with parental germline mosaicism for a novel mutati...
Infantile‐onset CMT2D/dSMA‐V in a Chinese family with parental germline mosaicism for a novel mutation in the GARS1 gene
About this item
Full title
Author / Creator
Huang, Yufeng , Bi, Bo , Zhao, Peiwei , Yu, Ting , Luo, Sukun , Tan, Li , Liu, Zhisheng , Liu, Jie and He, Xuelian
Publisher
United States: John Wiley & Sons, Inc
Journal title
Language
English
Formats
Publication information
Publisher
United States: John Wiley & Sons, Inc
Subjects
More information
Scope and Contents
Contents
Background and Aims
Both Charcot‐Marie‐Tooth disease type 2D (CMT2D) and distal spinal muscular atrophy type V (dSMA‐V) are GARS1 disease phenotypes involving axonal peripheral neuropathy. Patients often develop clinical symptoms in their teens. Herein, we reported a Chinese family with infantile‐onset CMT2D/dSMA‐V.
Methods
Clinical evalua...
Alternative Titles
Full title
Infantile‐onset CMT2D/dSMA‐V in a Chinese family with parental germline mosaicism for a novel mutation in the GARS1 gene
Authors, Artists and Contributors
Author / Creator
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_5201124ac7664ad78f3fdbaeb30cdc99
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_5201124ac7664ad78f3fdbaeb30cdc99
Other Identifiers
ISSN
2324-9269
E-ISSN
2324-9269
DOI
10.1002/mgg3.1846
