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New ASAH1 mutation found to cause rare SMA type in boy, 4

Summary by SMA News Today
A new ASAH1 mutation linked to SMA with progressive myoclonic epilepsy was found in a young boy, offering insights for genetic counseling.
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SMA News TodaySMA News Today

New ASAH1 mutation found to cause rare SMA type in boy, 4

A new ASAH1 mutation linked to SMA with progressive myoclonic epilepsy was found in a young boy, offering insights for genetic counseling.

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SMA News Today broke the news in on Friday, July 18, 2025.
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