A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance

Rio Frio T, McGee TL, Wade NM, Iseli C, Beckmann JS, Berson EL, Rivolta C.
Hum Mutat. 2009 Sep;30(9):1340-7.PMID: 19618371
A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance.

SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system

Arnaud E, Zenker J, de Preux Charles AS, Stendel C, Roos A, Médard JJ, Tricaud N, Weis J, Suter U, Senderek J, Chrast R.
Proc Natl Acad Sci U S A. 2009 Oct 13;106(41):17528-33. Epub 2009 Sep 29.PMID: 19805030 [PubMed - indexed for MEDLINE]
SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system.

Expression of mitofusin 2(R94Q) in a transgenic mouse leads to Charcot-Marie-Tooth neuropathy type 2A

Cartoni R, Arnaud E, Médard JJ, Poirot O, Courvoisier DS, Chrast R, Martinou JC.
Brain. 2010 May;133(Pt 5):1460-9.PMID: 20418531
http://www.ncbi.nlm.nih.gov/pubmed/20418531