Mutation screening of X-chromosomal neuroligin genes: No mutations in 196 autism probands
β Scribed by Vincent, John B. ;Kolozsvari, Debbie ;Roberts, Wendy S. ;Bolton, Patrick F. ;Gurling, Hugh M.D. ;Scherer, Stephen W.
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 53 KB
- Volume
- 129B
- Category
- Article
- ISSN
- 0148-7299
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## Abstract Neuroligin abnormalities have been recently implicated in the aetiology of autism spectrum disorders (ASD), given the finding of point mutations in the two Xβlinked genes NLGN3 and NLGN4X and the important role of neuroligins in synaptogenesis. To enquire on the relevance and frequency
X-linked recessive myotubular myopathy (XLMTM; MTM1) is a severe neonatal disorder often causing perinatal death of the affected males. The responsible gene, designated MTM1, was localized to proximal Xq28 and recently isolated. The characterization of MTM1 allowed us to screen for causing mutations