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Compound heterozygous CHAT gene mutations, a missense and a splice site variant, in two siblings with congenital myasthenic syndrome

Published Online: 2026-02-16

Authors

Kikuchi, Shin

Wada, Nobuhiro

Mariya, Tasuku

Ishikawa, Aki

Kihara, Minako

Furukawa, Sawako

Kato, Hidekazu

Nishio, Yosuke

Ogi, Tomoo

Ohsaki, Yuki

Tachi, Nobutada
Funding

Funding for this research was provided by:

Japan Society for the Promotion of Science (22K11315)

Japan Society for the Promotion of Science (25K21078)

Japan Society for the Promotion of Science (24K02208)

Japan Agency for Mecical Research and Development (JP24ek0109760)
License Information

Text and Data Mining valid from 2026-02-16

Accepted Manuscript valid from 2026-02-16
More Information

Article History

Received: 3 June 2025

Accepted: 6 February 2026

First Online: 16 February 2026

Declarations

:

: The authors declare no competing interests.

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