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Article

Preimplantation genetic testing as a means of preventing hereditary congenital myasthenic syndrome caused by RAPSN.

Molecular genetics & genomic medicine - 1 Mar 2024

Zhang Zhiping, Zhang Xueluo, Xue Huiqin, Chu Liming, Hu Lina, Bi Xingyu, Zhu Pengfei, Zhang Dongdong, Chen Jiayao, Cui Xiangrong, Kong Lingyin, Liang Bo, Wu Xueqing

Abstract excerpt

BACKGROUND: Congenital myasthenic syndrome is a heterogeneous group of inherited neuromuscular transmission disorders. Variants in RAPSN are a common cause of CMS, accounting for approximately 14%-27% of all CMS cases. Whether preimplantation genetic testing for monogenic disease (PGT-M) could be used to prevent the potential birth of CMS-affected children is unclear. METHODS: Application of WES (whole-exome...

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Identifiers

PMID: 38511267
DOI: 10.1002/mgg3.2409
PMCID: PMC10955331

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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