HUM-MOLGEN archive: DIAG: 4 messages; Chediak/Higashi, myopathy, 2 PT REQ.

************************************************************** HUM-MOLGEN DIAGnostics/Clinical Research ************************************************************** This DIAG message contains 4 submessage(s): 1) Chediak-Higashi syndrome 2) PT REQ.: Ceroid Lipofuscinosis 3) multicore/multiminicore myopathy 4) PT REQ.: Genetic effects of chemotherapy in albinism Carlo Gambacorti MD, Editor, Human Molecular Genetics network Diagnostics/Clinical Research Section ************************************************************** ************************************************************** My laboratory has recently mapped the gene for Chediak-Higashi syndrome (CHS), and it is likely that the gene will be cloned in the very near future. We are interested in receiving patient samples from individuals from CHS for mutation analysis on a collaborative basis. Interested individuals can contact: Richard A. Spritz, M.D. Professor of Medical Genetics and Pediatrics Laboratory of Genetics University of Wisconsin 445 Henry Mall Madison, WI 53706 USA Tel. 608-262-2832 FAX 608-262-2976 Email raspritz@facstaff.wisc.edu ************************************************************** Where I can find help? Hallo, I'm Erika I am seven years old and since I was three, I am affected by a terrible disease, called "Ceroid Lipofuscinosis". It was diagnosticated at the National Neurological Center "Carlo Besta" in Milan, Italy. All the doctors agree to say that there is no care, and so my life is at the endtrack. I lived normally for only three years .Today, I am able neither to walk nor to speak but I really would start to live again like when I first felt bad, before september '93. I need and I am asking for researchers' help all over the world: I really need their help. I have got a younger brother, 15 months old now, and untill now I don't know if he is sane or not. Please help me for him also. I have nothing to lose. I am ready to try every kind of medicine that is being studied or experimented. If I only could have my and my parents happiness back! Apparent patient location: Sardinia - Italy *** PLEASE, REPLY TO HUMAN MOLECULAR GENETICS DIRECTLY *** ************************************************************** We are currently collecting all cases of multicore/multiminicore myopathy in ord er to start linkage studies. If anybody interested in collaboration, please contact : J.A. Urtizberea, MD AFM - Genethon 1, rue de l'Internationale 91000 EVRY - FRANCE tel : 33 1 69 47 28 28 Fax: 33 1 60 77 12 16 e-mail : urtiz @ genethon.fr ************************************************************** Looking for information regarding the different genetic effects Chemo may have on an albino. Please help! Thank you!!! :) I have recently been staged with 3A Hodgkins Lymphoma Nodular Scerosing. I am an albino and have not been able to even find any one else with albinism with cancer. If you know someone with information please give them the above e-mail address or you have any information regarding this subject. *** PLEASE, REPLY TO HUMAN MOLECULAR GENETICS DIRECTLY *** **************************************************************