DRP000441
Homo sapiens Genome sequencing
We aimed to identify genetic etiology of cerebellar ataxia, mental retardation, and  disequilibrium syndrome (CAMRQ). Targeted sequencing of the entire CAMRQ2 locus, 7.1 Mb interval on chromosome 17p13, in three affected individuals and two obligate carriers uncovered the mutation associated with CAMRQ2.