A progressive KY myopathy could be caused by a missense pathogenic variant

CLINICAL GENETICS(2023)

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摘要
The peer review history for this article is available at https://publons.com/publon/10.1111/cge.14302. The data that support the findings of this study are available from the corresponding author upon reasonable request.
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关键词
KY gene,abnormal tongue,missense variant,progressive myopathy
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