╨╧рб▒с>■  $&■   #                                                                                                                                                                                                                                                                                                                                                                                                                                                ье┴Y ┐Ф bjbjєWєW С=С=Ф      ]ЪЪЪЪЪЪЪ╩╩╩╩╩ ╓ ╩Э╢ююююююююVXXXXXX$SЇGT|!Ъююююю|юЪЪюююююююЪюЪюVо╝ЪЪЪЪюVюhюVЪЪVют а┼.э#Й└╩╩юV1. Poster Canki-Klain; Nina; Prof. M.D.D.Sc. Division of Neurogenetics, Department of Neurology Zagreb University Medical School 10 000 Zagreb,Kiapatieva 12 Croatia (+ 385) 1 233 3233 ext 356 (+ 385) 1 233 5595 e-mail nina.canki-klain@zg.tel.hr Emery-Dreifuss muscular dystrophy ; Phenotype ; Mutation identification ; Emerin Not eligible Not eligible Direct molecular genetic diagnosis and carrier identification in one Emery-Dreifuss muscular dystrophy family Canki-Klain , Nina (1) (3) ; Recan, D (2) ; Llense S (2) ; Barbot JC (2) ;Leturcq F (2) ;Deburgrave N (2) ; Kaplan JC (2) ; Debevec M (3) ; Zurak N (1) (1)Department of Neurology, Zagreb University Medical School, Croatia, (2) Laboratoire de Biochimie et Gщnщtique Molщculaire,Paris, France, (3) Division of Medical Genetics,Department of Gynecology and Obstetrics,Clinical Centre of Ljubljana , Slovenia Emery-Dreifuss muscular dystrophy(EMD) is an uncommon but distinctive type of muscular dystrophy with striking inter and intrafamilial clinical variability. Therefore systematic clinico-genetic correlation studies are needed to better define the X-linked phenotype, to determine the major clinical features at different ages and to precise the diagnosis in sporadic cases. We report a three-generation X-linked EMD family. The propositus,initially seen at 24 years of age had severe,very early onset clinical course. Three affected maternal uncles died suddenly at 32, 34 and 62 respectively. His obligate carrier grand-mother died suddenly at 39 years of age. His sister was asymptomatic except ECG abnormalities. She had three children :a girl and DZ twin boys with normal early motor milestones. At 9 years,both twins had minimal clinical symptoms,moderately elevated CK and cardiac conduction defects. As no samples of the proband was available,the mutation was identified by direct sequencing of the whole EMDgene on genomic DNA of affected twins. It is a T insertion in exon 2(417 ins T) which results in a frameshift with a stop codon at position 62. The western blot, performed on lymphoblastoid cell lines, showed a total absence of emerin in both affected boys ,and normal labelled band in their sister. Ф ZР└<LДкЁJWd╥jlТ У Ф ¤¤¤¤¤¤¤¤¤¤¤¤¤¤¤¤¤¤¤¤ZР└<LДкЁJWd╥jlТ У Ф ░╨/ ░р=!░"░#Ра$Ра%░ [,@ё ,Normal B*CJmH <A@Є б<Default Paragraph FontФ       ФФ Ф Ф   noneC:\My Documents\E-DLisab.docnoneA:\E-DLisab.docDr Canki - KlajnD:\bilio.irb\X-EDMD Lisabon.docDr Canki - Klajn7C:\windows\TEMP\AutoRecovery save of X-EDMD Lisabon.asd @dТд╟sТТФpp @GРTimes New Roman5РАSymbol3&Р Arial"1И╨h7уQNуQ!е└┤┤А0╔  1noneDr Canki - Klajn■  рЕЯЄ∙OhлС+'│┘0`ИРЬи╕─╪ Ї  ( 4@HPXт1ssnonefone Normal.dotDr Canki - Klajnd3 CMicrosoft Word 8.0@xA╦@В)$!Й└@┤з╦#Й└■  ╒═╒Ь.УЧ+,∙оD╒═╒Ь.УЧ+,∙о0ь hpАИРШ аи░╕ └ ╬тnoneitlj 1 TitleШ 6> _PID_GUIDтAN{94AFD585-9123-11D2-A91E-8BF2A85C4F4B} ■    ■   ■    !"■   ¤   %■   ■   ■                                                                                                                                                                                                                                                                                                                                                                   Root Entry         └F ь E!Й└└f6э#Й└'А1Table             WordDocument        SummaryInformation(    DocumentSummaryInformation8            CompObj    jObjectPool            └f6э#Й└└f6э#Й└            ■                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                           ■       └FMicrosoft Word Document MSWordDocWord.Document.8Ї9▓q