Novel SQSTM1 (c.838G>T) Mutation Identified in Two Unrelated Cases of Cerebellar Ataxia and Gaze Palsy
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Mutations in the SQSTM1 gene have recently been identified as rare causes of progressive childhood neurodegenerative diseases. To date, only 27 cases have been reported, with 11 different mutations affecting SQSTM1. Here, we describe two new cases of progressi... ...
