Deletion of AFG3L2 associated with spinocerebellar ataxia type 28 in the context of multiple genomic anomalies

Am J Med Genet A. 2014 Dec;164A(12):3209-12. doi: 10.1002/ajmg.a.36771. Epub 2014 Sep 23.

Authors

Kenneth A Myers¹, Jodi Warman Chardon, Lijia Huang, Kym M Boycott

Affiliation

¹ Division of Neurology, Department of Pediatrics, Alberta Children's Hospital, University of Calgary, Calgary, Alberta, Canada.

PMID: 25251419
DOI: 10.1002/ajmg.a.36771

No abstract available

MeSH terms

ATP-Dependent Proteases / genetics*
ATPases Associated with Diverse Cellular Activities
Abnormalities, Multiple / genetics*
Abnormalities, Multiple / pathology*
Chromosome Deletion*
Chromosomes, Human, Pair 18 / genetics*
Genes, Dominant / genetics
Haploinsufficiency / genetics
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Klinefelter Syndrome / genetics*
Magnetic Resonance Imaging
Male
Spinocerebellar Ataxias / genetics
Spinocerebellar Ataxias / pathology*
Young Adult

Substances

ATP-Dependent Proteases
AFG3L2 protein, human
ATPases Associated with Diverse Cellular Activities