Pathogenic variants in the SMN complex gene GEMIN5 cause cerebellar atrophy.
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DOI: 10.1111/cge.14066
Abstract: Cerebellar ataxia is a genetically heterogeneous disorder. GEMIN5, encoding an RNA-binding protein of the survival of motor neuron complex, is essential for small nuclear ribonucleoprotein biogenesis, and it was recently reported that biallelic loss-of-function variants… read more here.
Keywords: cerebellar atrophy; cause cerebellar; gemin5 cause;