ࡱ> $&#Y  bjbjWW ==] o        4666666$[O Z     Z      4 444  Pň4Limb-girdle muscular dystrophy with calpain deficiency(LGMD 2A) in Croatia: a survey in a small rural community Canki-Klain Nina(1); Zurak Nika (1); Leturcq Francoise (2); Recan Dominique (2); Kaplan Jean -Claude (2); Urtizberea Jan Andoni (3) ; Potocki Kristina (4); Milicic Davor (5) (1) Department of Neurology, Zagreb University Medical School, Croatia (2)Laboratoire de biochimie et Genetique Moleculaire, Paris, France (3)Institut de Myologie, Hopital de la Salpetriere, Paris, France (4)Department of Radiology, Zagreb University Medical School, Croatia (5)University Clinic for Cardiovascular Diseases, Zagreb, Croatia Autosomal recessive limb-girdle muscular dystrophies (LGMD2) form a group of muscle diseases presenting great clinical and genetic heterogeneity. They are characterized by progressive muscular atrophy and weakness of the pelvic and shoulder girdle and proximal limb muscles, showing considerable variation in age of onset, evolution, and severity. At least six distinct genetic entities leading to an LGMD2 have been identified in the last years. They include four genes encoding for the sarcoglycans, the gene encoding for the calpain 3 (LGMD2A) and the LGMD2B locus mapped on chromosome 2p. We report seven males (two already deceased) and two females affected by a muscular dystrophy, similar to the description of juvenile limb-girdle muscular dystrophy of Reunion Island (Fardeau et al. Brain,1996;119: 295). A detailed clinical and genealogical study of these 9 patients from five apperently non related families permitted to identify links between the different nuclear families. Preliminary results of molecular analysis obtained by DGGE in two families have revealed three homozygous patients (oncle and his niece in one family ; one of two brothers in the second ) for the mutation 551(A. Because of increased inbreeding, we suspect that the same mutation is the cause of LGMD in other families as the consequence of founder effect in this village. Keywords: calpain; clinical characteristics; genetics % &   mH  jDmHmHq g3uv     @&q g3uv     8z. A!"#$% [,@,Normal B*CJmH <A@<Default Paragraph Font8Y8 Document Map-D OJQJ   BJopq !gh34uvABABAB%&BJopq fg23tvnone'C:\TEMP\AutoRecovery save of ESHG31.asdnoneC:\My Documents\ESHG31.docnoneC:\My Documents\ESHG31.docnoneC:\My Documents\ESHG31.docnone A:\ESHG31.docnone A:\ESHG31.docKLAIN A:\ESHG31.docKLAINC:\My Documents\4WMS.docDr Canki - Klajn*C:\My Documents\bibliografija NCK\4WMS.docDr Canki - KlajnC:\My Documents\4WMS.doc@8t`@GTimes New Roman5Symbol3& Arial5& :Tahoma"0hyQyQI6f(& $0d]Genetic and clinical study of LGMD type 2A in seven patients from a small village in CroatianoneDr Canki - Klajn Oh+'0 (< Xd    ^Genetic and clinical study of LGMD type 2A in seven patients from a small village in Croatia enenoneic one Normal.dot Dr Canki - Klajncal2 CMicrosoft Word 8.0l@G@^<@?8ň@?8ň( ՜.+,D՜.+,H hp  *none j ^Genetic and clinical study of LGMD type 2A in seven patients from a small village in Croatia Title 6> _PID_GUIDAN{F0DDFCFF-ACAF-11D2-A91E-C609598C1878}  !"%Root Entrynert 5.6..docSTEINE~1.DOCMjD<@ F{PňQPň'PROM1TableTKOV~1.DOCpC>42X(K Rsum du Projet ADOC<@8C(%R CLINICAL A IC SWordDocumentDOCiCpC(c Ameriki projeDOC\C2(2TA%c Andoni05.dI05.SummaryInformationCeD$ an(9.DOC2(2$[ audrezet.dZET.DocumentSummaryInformationC28-etika.docHD-ETIKA.DOCC2)2 PlCompObj~1.DOCC:/2N( Politano adresa.dopC>32LY( jcSCObjectPoolCeDI$x Radan-Napulj.docRADAN-~1.DOCQPňQPňXBD @C* 2R;*Jz 3WMS.doc3WMS.C:i+00#C:\4  FMicrosoft Word Document MSWordDocWord.Document.89q