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  Carlo Gambacorti: DIAG: 4 messages; Chediak/Higashi, myopathy, 2 PT REQ.  
   

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To: Multiple recipients of list HUM-MOLGEN <HUM-MOLGEN@NIC.SURFNET.NL>
Subject: DIAG: 4 messages; Chediak/Higashi, myopathy, 2 PT REQ.
From: Carlo Gambacorti <GAMBACORTI@ICIL64.CILEA.IT>
Date: Wed, 7 Feb 1996 08:44:47 +0000

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           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 ***
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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 ***

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