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Article

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

Molecular genetics & genomic medicine - 1 Jan 2022

Huang Yufeng, Bi Bo, Zhao Peiwei, Yu Ting, Luo Sukun, Tan Li, Liu Zhisheng, Liu Jie, He Xuelian

Abstract excerpt

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 evaluation and laboratory examination were performed in our proband, the older...

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Identifiers

PMID: 34898052
DOI: 10.1002/mgg3.1846
PMCID: PMC8801134

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