ISSN:
1432-1459
Keywords:
Key words Congenital cerebellar
;
hypoplasia
;
X-chromosome
;
Genetic locus
;
Candidate genes
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract A gene for X-linked congenital cerebellar hypoplasia was recently localized to chromosome Xp11.21-q24. This region comprises several brain-specific genes responsible for various neurological disorders, including the proteolipid protein (PLP), doublecortin, and PAK3 genes. We screened these genes for mutations in patients with X-linked congenital cerebellar hypoplasia and found no pathogenic nucleotide changes or gene dose alterations. These findings allow the ruling out of PLP, doublecortin, and PAK3 as the disease-causing genes in this hereditary neurological syndrome.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/s004150050539
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