Article

Duplication within 14q32.13 implicates a chimeric <i>CLMN</i> :: <i>SYNE3</i> RNA transcript in cerebellar ataxia

2026-04-24

Abstract excerpt

The spinocerebellar ataxias (SCAs) are a clinically heterogenous group of neurodegenerative disorders that affect movement, vision, speech and balance. Here, we reassign the linkage of SCA30 to 14q32.13 based on a cumulative LOD score >12. Within this interval we identified a 331 kb duplication, absent in population controls and not observed in >800 unrelated individuals with genetically unresolved cerebellar atax...

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Literature Corpus work: 901d6027-4c68-57b7-ab52-2cb7c0acc6fd
DOI: 10.64898/2026.04.23.26350376

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