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LSM7 Variants Involving Key Amino-Acids for LSM Complex Function Cause a Neurodevelopmental Disorder with Leukodystrophy and Cerebellar Atrophy

Matis Crespin, Karine Siquier-Pernet,Pauline Marzin,Christine Bole-Feysot,Valerie Malan,Patrick Nitschke,Marie Hully,Charles-Joris Roux, Michel Lemoine,Marlene Rio,Nathalie Boddaert,Thomas Courtin,Vincent Cantagrel

HUMAN GENETICS AND GENOMICS ADVANCES（2025）

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Key words
Leukodystrophy,LSM7,SM-like proteins,cerebellar atrophy,cerebellar hypoplasia,RNA metabolism,neurodevelopmental disorder
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