Article

Mutation Analysis of GARS and Genotype-Phenotype Correlation in CMT2D/HMN5A in Chinese Patients

2020-10-08

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold>CMT2D is a rare subtype of axonal CMT, caused by a variant of the glycyl-tRNA synthetase (GARS) gene which is also a disease-causing gene of distal spinal muscular atrophy type V (dSMA-V) or hereditary motor neuropathy 5A (HMN5A). There were only several cases reported in China, all lacking an epidemiological study of CMT2D/ HMN5A.<bold>Methods</bold>206 patients...

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Literature Corpus work: f06ee1f7-48a5-5dd1-befb-49a4708342c2
DOI: 10.21203/rs.3.rs-43866/v2

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