ࡱ> "$!Y g bjbjWW -==g] [ """"""$ *FFnnnn  nn   `*  OCULOPHARYNGEAL MUSCULAR DYSTROPHY IN A CROATIAN FAMILY WITH A SHORT GCG EXPANSION (GCG)9 IN PABP2 GENE: A CASE REPORT Canki-Klain N1, otarko M,1 Vranje D1., Urtizberea J.A2 Richard P.3, Zurak N.1 1Department of Neurology, Zagreb University School of Medicine, 10 000 Zagreb, Croatia; 2 Institut de Myologie; 3 Service de Biochimie, Hpital Piti-Salptrire, 75 013 Paris, France. Oculopharyngeal musular dystrophy (OPMD) (MIM 164 300) is an autosomal dominant generalised myopathy caused by short (GCG)8-13 coding triplet repeat expansions in the polyadenylation binding protein 2 (PABP2) gene. First described in French Canadians (Taylor, 1915), the disease has become a universally recognised. To the best of our knowledge this is the first Croatian family reported to date. The diagnosis in the proband, a 62 year- old women was based on :1.clinical data (onset at the age of 50 with ptosis, dysphagia, a nasal voice and proximal muscular weakness of lower limbs); 2.genealogical analysis ( similar symptoms in the mother, the sister, and the brother, all already dead); 3. myogenic pattern of EMG; 4. moderate elevation of serum creatine kinase; 5. CT-scan of the skeletal muscles. DNA analysis has confirmed the diagnosis finding allele with normal 6 and mutated 9 (GCG) repeat expansion. Keywords: Oculopharyngeal muscular dystrophy, Croatian family, (GCG)9 Z[y#%;> * d e f g H*6mHH*mH >*H*mH>*mHH*mHmH y f g y f g +0PP&P . A!"#$% [(@(NormalCJmH <A@<Default Paragraph Fontgg g g $JNNhjBbbei$JNNhjBbbeiKLAIN'C:\My Documents\kongresi\Capri OPMD.docKLAIN3C:\WINDOWS\TEMP\AutoRecovery save of Capri OPMD.asdKLAIN'C:\My Documents\kongresi\Capri OPMD.docKLAIN'C:\My Documents\kongresi\Capri OPMD.docKLAIN3C:\WINDOWS\TEMP\AutoRecovery save of Capri OPMD.asdKLAIN3C:\WINDOWS\TEMP\AutoRecovery save of Capri OPMD.asdKLAIN'C:\My Documents\kongresi\Capri OPMD.docKLAINA:\Capri OPMD.docKLAINA:\Capri OPMD.docDr Canki - Klajn.C:\My Documents\kongresi\Capri OPMD rezime.doc@Tg@GTimes New Roman5Symbol3& Arial"0hcEFcEFD&t L $0dx kOculopharyngeal muscular dystrophy in a Croatian family with a short GCG expansion (GCG) (9) in PABP2 geneKLAINDr Canki - Klajn Oh+'0 (4D `l    lOculopharyngeal muscular dystrophy in a Croatian family with a short GCG expansion (GCG) (9) in PABP2 geneculKLAINhaLAINormalaDr Canki - Klajnusc2 CMicrosoft Word 8.0c@G@ꃹ@J*@J*t ՜.+,D՜.+,X hp  8KLAINa xj lOculopharyngeal muscular dystrophy in a Croatian family with a short GCG expansion (GCG) (9) in PABP2 gene Title 6> _PID_GUIDAN{C9BF2B20-1266-11D4-9A98-AECC9535E5E7}  #Root EntryEx D 5 FU* *%1Table WordDocument-SummaryInformation(DocumentSummaryInformation8CompObjjObjectPool * *  FMicrosoft Word Document MSWordDocWord.Document.89q