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)}}{\*\pnseclvl9\pnlcrm\pnstart1\pnindent720\pnhang {\pntxtb (}{\pntxta )}}\pard\plain \ql \li0\ri0\widctlpar\aspalpha\aspnum\faauto\adjustright\rin0\lin0\itap0 \fs24\lang2057\langfe1041\loch\af0\hich\af0\dbch\af11\cgrid\langnp2057\langfenp1041 {\lang1050\langfe1041\langnp1050\insrsid11427727 \hich\af0\dbch\af11\loch\f0 Limb girdle muscular dystrophy 2I in Spanish and Croatian population}{\lang1050\langfe1041\langnp1050\insrsid2370933 \par }\pard \ql \li360\ri0\widctlpar\aspalpha\aspnum\faauto\adjustright\rin0\lin360\itap0\pararsid13458997 {\lang1050\langfe1041\langnp1050\insrsid11427727 \hich\af0\dbch\af11\loch\f0 Freixas}{\lang1050\langfe1041\super\langnp1050\insrsid11427727 \hich\af0\dbch\af11\loch\f0 1\hich\af0\dbch\af11\loch\f0 }{\lang1050\langfe1041\langnp1050\insrsid11427727\charrsid11427727 \hich\af0\dbch\af11\loch\f0 ,}{\lang1050\langfe1041\langnp1050\insrsid11427727 \hich\af0\dbch\af11\loch\f0 N.Canki-Klain}{ \lang1050\langfe1041\super\langnp1050\insrsid11427727\charrsid13458997 \hich\af0\dbch\af11\loch\f0 2}{\lang1050\langfe1041\langnp1050\insrsid11427727 \hich\af0\dbch\af11\loch\f0 , M.Olive}{ \lang1050\langfe1041\super\langnp1050\insrsid11427727\charrsid11427727 \hich\af0\dbch\af11\loch\f0 3}{\lang1050\langfe1041\langnp1050\insrsid11427727 \hich\af0\dbch\af11\loch\f0 , M.Rodri\hich\af0\dbch\af11\loch\f0 g\hich\af0\dbch\af11\loch\f0 uez}{ \lang1050\langfe1041\super\langnp1050\insrsid11427727\charrsid11427727 \hich\af0\dbch\af11\loch\f0 1}{\lang1050\langfe1041\langnp1050\insrsid11427727 \hich\af0\dbch\af11\loch\f0 , M. Calaf}{ \lang1050\langfe1041\super\langnp1050\insrsid11427727\charrsid11427727 \hich\af0\dbch\af11\loch\f0 1}{\lang1050\langfe1041\langnp1050\insrsid11427727 \hich\af0\dbch\af11\loch\f0 , J.Colomer}{ \lang1050\langfe1041\super\langnp1050\insrsid11427727\charrsid11427727 \hich\af0\dbch\af11\loch\f0 4}{\lang1050\langfe1041\langnp1050\insrsid11427727 \hich\af0\dbch\af11\loch\f0 , R\hich\af0\dbch\af11\loch\f0 .Arteaga}{ \lang1050\langfe1041\super\langnp1050\insrsid11427727\charrsid11427727 \hich\af0\dbch\af11\loch\f0 5}{\lang1050\langfe1041\langnp1050\insrsid11427727 \hich\af0\dbch\af11\loch\f0 , M.Baiget}{ \lang1050\langfe1041\super\langnp1050\insrsid11427727\charrsid11427727 \hich\af0\dbch\af11\loch\f0 1}{\lang1050\langfe1041\langnp1050\insrsid11427727 \hich\af0\dbch\af11\loch\f0 , P.Gallano}{ \lang1050\langfe1041\super\langnp1050\insrsid11427727\charrsid11427727 \hich\af0\dbch\af11\loch\f0 1}{\lang1050\langfe1041\super\langnp1050\insrsid11427727 \par }\pard \ql \li0\ri0\widctlpar\aspalpha\aspnum\faauto\adjustright\rin0\lin0\itap0\pararsid13458997 {\lang1050\langfe1041\super\langnp1050\insrsid13458997 \par }\pard \ql \li360\ri0\widctlpar\aspalpha\aspnum\faauto\adjustright\rin0\lin360\itap0\pararsid6298112 {\lang1050\langfe1041\super\langnp1050\insrsid6298112\charrsid6298112 \hich\af0\dbch\af11\loch\f0 1}{\lang1050\langfe1041\langnp1050\insrsid6298112 \hich\af0\dbch\af11\loch\f0 Hospital Sant Pau, Barcelona, Spain, }{\lang1050\langfe1041\super\langnp1050\insrsid6298112\charrsid6298112 \hich\af0\dbch\af11\loch\f0 2}{\lang1050\langfe1041\langnp1050\insrsid6298112 \hich\af0\dbch\af11\loch\f0 Zagreb University School of Medicine, Zagreb, Croatia, }{\lang1050\langfe1041\super\langnp1050\insrsid6298112\charrsid6298112 \hich\af0\dbch\af11\loch\f0 3}{\lang1050\langfe1041\langnp1050\insrsid6298112 \hich\af0\dbch\af11\loch\f0 Hospital de Bellvitge, Barcelona, Spain, }{\lang1050\langfe1041\super\langnp1050\insrsid6298112\charrsid6298112 \hich\af0\dbch\af11\loch\f0 4}{\lang1050\langfe1041\langnp1050\insrsid6298112 \hich\af0\dbch\af11\loch\f0 Hospital Sant Joan de Deu, Barcelona, Spain, }{\lang1050\langfe1041\super\langnp1050\insrsid6298112\charrsid6298112 \hich\af0\dbch\af11\loch\f0 5}{\lang1050\langfe1041\langnp1050\insrsid6298112 \hich\af0\dbch\af11\loch\f0 Hospital Valdecilla, Santander, Spain}{\lang1050\langfe1041\langnp1050\insrsid13458997 \par }{\lang1050\langfe1041\langnp1050\insrsid6298112 \par }{\lang1050\langfe1041\langnp1050\insrsid4285004 \hich\af0\dbch\af11\loch\f0 Limb Girdle Muscular Dystrophy}{\lang1050\langfe1041\langnp1050\insrsid7434585 \hich\af0\dbch\af11\loch\f0 type 2I (LGMD2I) is an autosomal recessive muscular dystrophy caused by mutations in the Fukutin Related Protein(FKRP). This gene is located at 19q13.3 and contains four exons. Immunohisto\hich\af0\dbch\af11\loch\f0 chemical analysis is not possible to date because no specific antibodies have been isolated. Thus, mutational analysis is the method to obtain an accurate molec\hich\af0\dbch\af11\loch\f0 ular diagnosis of the disease. The aim of this work is \hich\af0\dbch\af11\loch\f0 : 1) to diagnose the patients with clinical features suggesting LGMD2I, 2) to observe the frequency of this pathology in these two populations and, 3) to offer genetic counselling to the affected families.}{ \lang1050\langfe1041\langnp1050\insrsid11948161 \par \hich\af0\dbch\af11\loch\f0 We studied 60 Spanish and 10 Croatian patients presenting a LGMD2I phenotype and in whom we previously excluded a dystrophinopathy, \hich\af0\dbch\af11\loch\f0 LGMD2A\hich\af0\dbch\af11\loch\f0 , LGMD2C \hich\af0\dbch\af11\loch\f0 and LGMD2D\hich\af0\dbch\af11\loch\f0 . The molecular study was performed following two steps\hich\af0\dbch\af11\loch\f0 : \par {\listtext\pard\plain\insrsid11948161 \hich\af0\dbch\af11\loch\f0 1)\tab}}\pard \ql \fi-360\li720\ri0\widctlpar\jclisttab\tx720\aspalpha\aspnum\faauto\ls3\adjustright\rin0\lin720\itap0\pararsid8461120 {\lang1050\langfe1041\langnp1050\insrsid11948161 \hich\af0\dbch\af11\loch\f0 The analysis of the L\hich\af0\dbch\af11\loch\f0 276}{\lang1050\langfe1041\langnp1050\insrsid8461120 \hich\af0\dbch\af11\loch\f0 L mutation rec\hich\af0\dbch\af11\loch\f0 current in North Europea\hich\af0\dbch\af11\loch\f0 n population) by restriction enzyme analysis. \par }\pard \ql \li360\ri0\widctlpar\aspalpha\aspnum\faauto\adjustright\rin0\lin360\itap0\pararsid8461120 {\lang1050\langfe1041\langnp1050\insrsid8461120 \hich\af0\dbch\af11\loch\f0 2)The sequencing of the unique coding exon 4. \par \hich\af0\dbch\af11\loch\f0 We found four mi\hich\af0\dbch\af11\loch\f0 ssens mutations in seven patients:\hich\af0\dbch\af11\loch\f0 \hich\af0\dbch\af11\loch\f0 E55Q, R143S,\hich\af0\dbch\af11\loch\f0 L276L and G373S, two of them were novel mutations:} {\lang1050\langfe1041\langnp1050\insrsid7434585 \hich\af0\dbch\af11\loch\f0 }{\lang1050\langfe1041\langnp1050\insrsid8461120 \hich\af0\dbch\af11\loch\f0 E55Q\hich\af0\dbch\af11\loch\f0 and g373S. Their}{\lang1050\langfe1041\langnp1050\insrsid7496877 \hich\af0\dbch\af11\loch\f0 pathogenia were demonstrate analysing 50 chromosomes from normal controls and 50 chromosomes from other myopathy patients.}{\lang1050\langfe1041\langnp1050\insrsid10163398 \hich\af0\dbch\af11\loch\f0 The \hich\af0\dbch\af11\loch\f0 \hich\af0\dbch\af11\loch\f0 L276L\hich\af0\dbch\af11\loch\f0 mutation was identified in four patients (3Spanish and 1 Croatian)}{\lang1050\langfe1041\langnp1050\insrsid10686395 \hich\af0\dbch\af11\loch\f0 and should be considered the more frequent FKRP mutation in the population studied. The low number of FKRP mutations i\hich\af0\dbch\af11\loch\f0 dentified despite }{\lang1050\langfe1041\langnp1050\insrsid11693331 \hich\af0\dbch\af11\loch\f0 the patients were very well\hich\af0\dbch\af11\loch\f0 classified could indicate}{\lang1050\langfe1041\langnp1050\insrsid16274874 \hich\af0\dbch\af11\loch\f0 the low frequency of LGMD2I in these two populations.}{ \lang1050\langfe1041\langnp1050\insrsid4285004\charrsid13458997 \par }}