A missense founder mutation in <it>VLDLR</it> is associated with Dysequilibrium Syndrome without quadrupedal locomotion

• Main Authors: Ali Bassam R (Author), Silhavy Jennifer L (Author), Gleeson Matthew J (Author), Gleeson Joseph G (Author), Al-Gazali Lihadh (Author)
• Format: Book
• Published: BMC, 2012-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>Dysequilibrium syndrome is a genetically heterogeneous condition that combines autosomal recessive, nonprogressive cerebellar ataxia with mental retardation. The condition has been classified into cerebellar ataxia, mental retardatio...