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{\operator Nina Canki-Klain}{\creatim\yr2006\mo7\dy11\hr23\min17}{\revtim\yr2006\mo7\dy11\hr23\min17}{\printim\yr2006\mo7\dy11\hr23}{\version2}{\edmins0}{\nofpages1}{\nofwords315}{\nofchars1797}{\*\company Organizacija}{\nofcharsws2108}{\vern24689}}
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{\pntxtb (}{\pntxta )}}\pard\plain \ql \li0\ri0\widctlpar\aspalpha\aspnum\faauto\adjustright\rin0\lin0\itap0\pararsid15993321 \fs24\lang2057\langfe1033\cgrid\langnp2057\langfenp1033 {\f37\insrsid3228121\charrsid5142574 
\par }\pard \qc \li0\ri0\widctlpar\aspalpha\aspnum\faauto\adjustright\rin0\lin0\itap0\pararsid5733840 {\f37\lang1060\langfe1033\langnp1060\insrsid4620257\charrsid5667864 KLINI\'c8NE, GENETSKE IN EPIDEMIOLO\'8aKE ZNA\'c8ILNOSTI }{
\f37\lang1060\langfe1033\langnp1060\insrsid4157017 NAJBOLJ POMEMBNIH OBRO\'c8ASTIH }{\f37\lang1060\langfe1033\langnp1060\insrsid7423307 MI\'8aI\'c8NIH DISTROFIJ (}{\f37\lang1060\langfe1033\langnp1060\insrsid1004863 LIMB-GIRDLE MUSCULAR DYSTROPHIES -}{
\f37\lang1060\langfe1033\langnp1060\insrsid4620257\charrsid5667864 LGMD}{\f37\lang1060\langfe1033\langnp1060\insrsid7423307 s)}{\f37\lang1060\langfe1033\langnp1060\insrsid2317277\charrsid5667864 
\par }\pard \qc \li0\ri0\widctlpar\aspalpha\aspnum\faauto\adjustright\rin0\lin0\itap0\pararsid5128892 {\f37\lang1060\langfe1033\langnp1060\insrsid4620257\charrsid5667864 Nina Canki-Klain
\par Hrva\'9aki in\'9atitut za raziskovanje mo\'9eganov in Oddelek za nevrologijo, Medicinske fakultete Univerze v Zagrebu, Hrva\'9aka
\par 
\par }\pard \qj \li0\ri0\widctlpar\aspalpha\aspnum\faauto\adjustright\rin0\lin0\itap0\pararsid5128892 {\f37\lang1060\langfe1033\langnp1060\insrsid4620257\charrsid5667864 LGMD}{\f37\lang1060\langfe1033\langnp1060\insrsid4284314 s}{
\f37\lang1060\langfe1033\langnp1060\insrsid1004863  }{\f37\lang1060\langfe1033\langnp1060\insrsid4620257\charrsid5667864  so heterogena skupina genetskih motenj, za katere je zna\'e8ilna progresivna mi\'9ai\'e8na oslabitev in u}{
\f37\lang1060\langfe1033\langnp1060\insrsid5391365\charrsid5667864 pad z za\'e8etkom v proksimaln}{\f37\lang1060\langfe1033\langnp1060\insrsid10686115 i}{\f37\lang1060\langfe1033\langnp1060\insrsid4620257\charrsid5667864  }{
\f37\lang1060\langfe1033\langnp1060\insrsid5391365\charrsid5667864 muskulaturi}{\f37\lang1060\langfe1033\langnp1060\insrsid10686115 .}{\f37\lang1060\langfe1033\langnp1060\insrsid4620257\charrsid5667864 Te bolezni so zelo raznolike glede na starost ob za
\'e8etku}{\f37\lang1060\langfe1033\langnp1060\insrsid5667864\charrsid5667864  bolezni}{\f37\lang1060\langfe1033\langnp1060\insrsid4620257\charrsid5667864 , hitrost napredovanja, vzorec}{\f37\lang1060\langfe1033\langnp1060\insrsid5391365\charrsid5667864 
 vklju\'e8evanja skeletnega mi\'9ai\'e8ja, prizadetost srca in na\'e8in dedovanja, s tako avtosomno recesivno kot dominantno obliko. Najpogostej\'9ae klini\'e8ne oblike so avtosomno recesivne, klasificirane}{
\f37\lang1060\langfe1033\langnp1060\insrsid9010952  kot LGMD}{\f37\lang1060\langfe1033\langnp1060\insrsid1004863  tip }{\f37\lang1060\langfe1033\langnp1060\insrsid5391365\charrsid5667864 2 (}{\f37\lang1060\langfe1033\langnp1060\insrsid9010952  }{
\f37\lang1060\langfe1033\langnp1060\insrsid5391365\charrsid5667864 A-J}{\f37\lang1060\langfe1033\langnp1060\insrsid9010952  }{\f37\lang1060\langfe1033\langnp1060\insrsid5391365\charrsid5667864 ). V splo\'9anem imajo huj\'9ai potek v primerjavi z dominant}
{\f37\lang1060\langfe1033\langnp1060\insrsid9010952 nimi oblikami, imenovanimi LGMD}{\f37\lang1060\langfe1033\langnp1060\insrsid1004863  tip }{\f37\lang1060\langfe1033\langnp1060\insrsid5391365\charrsid5667864 1 (}{
\f37\lang1060\langfe1033\langnp1060\insrsid9010952  }{\f37\lang1060\langfe1033\langnp1060\insrsid5391365\charrsid5667864 A-F}{\f37\lang1060\langfe1033\langnp1060\insrsid9010952  }{\f37\lang1060\langfe1033\langnp1060\insrsid5391365\charrsid5667864 
). Vse so neozdravljive in pogosto \'9eivljenjsko }{\f37\lang1060\langfe1033\langnp1060\insrsid10515758\charrsid5667864 ogro\'9eajo\'e8e}{\f37\lang1060\langfe1033\langnp1060\insrsid5391365\charrsid5667864  bolezni otrok in mladih odraslih}{
\f37\lang1060\langfe1033\langnp1060\insrsid3936094\charrsid5667864 . Zaradi tega predstavljajo ob\'e8utno zdravstveno in ekonomsko obremenitev, ne samo pacientov in njihovih dru\'9ein, ampak tudi celotne dru\'9ebe.}{
\f37\lang1060\langfe1033\langnp1060\insrsid4620257\charrsid5667864  }{\f37\lang1060\langfe1033\langnp1060\insrsid13711668\charrsid5667864 Ker nismo sposobni}{\f37\lang1060\langfe1033\langnp1060\insrsid3936094\charrsid5667864  u\'e8inkovito zdraviti te}{
\f37\lang1060\langfe1033\langnp1060\insrsid13711668\charrsid5667864 h motenj, je izredno pomembno prepre\'e8evanje njihovega pojavljanja. V ta namen moramo poznati }{\f37\lang1060\langfe1033\langnp1060\insrsid7430875 natan\'e8}{
\f37\lang1060\langfe1033\langnp1060\insrsid7175129 n}{\f37\lang1060\langfe1033\langnp1060\insrsid7430875 e}{\f37\lang1060\langfe1033\langnp1060\insrsid7175129  }{\f37\lang1060\langfe1033\langnp1060\insrsid13711668\charrsid5667864 
genetske vzroke, da bi omogo\'e8ili ustrezno genetsko svetovanje, predvideli tveganja za paciente, kot so razvoj kardiomiopatije, in da bi uporabili specifi\'e8no zdravljenje, ko bo to enkrat na voljo. Te\'9eave s klasifikacijo povzro\'e8a razmeroma }{
\f37\lang1060\langfe1033\langnp1060\insrsid5189037 pogosto posamezno }{\f37\lang1060\langfe1033\langnp1060\insrsid13711668\charrsid5667864 pojavljanje avtosomno recesivnih oblik kot tudi interfamiliarna kli}{
\f37\lang1060\langfe1033\langnp1060\insrsid5189037 ni\'e8na variabilnost}{\f37\lang1060\langfe1033\langnp1060\insrsid13711668\charrsid5667864 . Molekularne genetsk}{\f37\lang1060\langfe1033\langnp1060\insrsid16394337 e raziskave so pokazale raznovrstne}{
\f37\lang1060\langfe1033\langnp1060\insrsid13711668\charrsid5667864  vzro\'e8ne mutacije v genih za }{\f37\lang1060\langfe1033\langnp1060\insrsid7866548 razli\'e8ne proteine}{\f37\lang1060\langfe1033\langnp1060\insrsid5667864\charrsid5667864 , ki so vklju
\'e8eni v vse vidik}{\f37\lang1060\langfe1033\langnp1060\insrsid7866548 e biologije mi\'9ai\'e8ne celice. Ti }{\f37\lang1060\langfe1033\langnp1060\insrsid5667864\charrsid5667864 nov}{\f37\lang1060\langfe1033\langnp1060\insrsid7866548 o odkriti}{
\f37\lang1060\langfe1033\langnp1060\insrsid5667864\charrsid5667864  skeletno mi\'9ai\'e8ni geni nosijo zapis za }{\f37\lang1060\langfe1033\langnp1060\insrsid7866548 vsakovrstne }{\f37\lang1060\langfe1033\langnp1060\insrsid5667864\charrsid5667864 
beljakovine z razli\'e8no lokalizacijo znotraj ali na povr\'9aini skeletno mi\'9ai\'e8nega vlakna, kot so sarkolema}{\f37\lang1060\langfe1033\langnp1060\insrsid5203642  (sarkoglikani, disferlin, kaveolin 3),}{
\f37\lang1060\langfe1033\langnp1060\insrsid5667864\charrsid5667864  sarkomera}{\f37\lang1060\langfe1033\langnp1060\insrsid5203642  (teletonin, miotilin}{\f37\lang1060\langfe1033\langnp1060\insrsid5667864\charrsid5667864 ,}{
\f37\lang1060\langfe1033\langnp1060\insrsid5203642  titin}{\f37\lang1060\langfe1033\langnp1060\insrsid2359553 )}{\f37\lang1060\langfe1033\langnp1060\insrsid5203642 , }{\f37\lang1060\langfe1033\langnp1060\insrsid7866548 mi\'9ai\'e8ni citosol}{
\f37\lang1060\langfe1033\langnp1060\insrsid2359553  (kalpain 3, TRIM32)}{\f37\lang1060\langfe1033\langnp1060\insrsid7866548 , jedro}{\f37\lang1060\langfe1033\langnp1060\insrsid2359553  (emerin, lamin A/C)}{
\f37\lang1060\langfe1033\langnp1060\insrsid7866548  }{\f37\lang1060\langfe1033\langnp1060\insrsid5667864\charrsid5667864  in encim glikolizacijske poti}{\f37\lang1060\langfe1033\langnp1060\insrsid2359553  ( FKRP}{
\f37\lang1060\langfe1033\langnp1060\insrsid9243007 )}{\f37\lang1060\langfe1033\langnp1060\insrsid5667864\charrsid5667864 .}{\f37\lang1060\langfe1033\langnp1060\insrsid9518927  Epidemiolo\'9aki podatki predvsem za LGMD2 so odvisni o populaciji.}{
\f37\lang1060\langfe1033\langnp1060\insrsid4620257\charrsid5667864 
\par }\pard \qc \li0\ri0\widctlpar\aspalpha\aspnum\faauto\adjustright\rin0\lin0\itap0\pararsid5128892 {\f37\lang1060\langfe1033\langnp1060\insrsid4620257\charrsid5667864 
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