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  • Mutacion MyHC se asocia a mayor riesgo de muerte subita.
  • Genome

    1. 1. G nm a a ioa u r eo ic cr vs l d ca A glie a 1 a io g neS r R C r l ia r d o
    2. 2. Irdcio n o uc n t• Ef mdds ooa s Ia o aM criosn n r eae C rnr en r s l ioa e ia ft d o aa et a cd s hr c lmn s iao a e nia t e o e• E uod l f tr d rs n m dicb s a s n eo a oe e ieg o o ifal ms sc s o e d m at qe xt o inn s u eis n e e
    3. 3. Irdcio n o uc n t• N r a et s idn icn oml n e et a m e if l f tr a b n l y o a oe miete sc s as l gnto cm cs o ee so o oa s ic s spr a ea ds a• Lsatr a b n l o f oe miete c s as at n o r l f tr c a sbeo a oe u sc s gnto prin ial ee s a icr ic a a ef mdd n r ea e
    4. 4. Irdcio n o uc n t• L mj f m d et ial rs s ee o pr a e ro a e s d r sieg gnt s a o r u o o ic a ef mddsa ioa u r : n r eae cr vs le e d ca s • A a is ee od uio nl gnt e n n is ic • Et io d a cc n ee a s d s e s iaio gnt u o ic • Et io e gml s d sn e e s u o
    5. 5. A a is ee od uio nl gnt e n n is ic• Et u iz ml l pd r sa il e e d ne e et a pt ns e e nia n s t a uip s eig e f ia s n od s idn icn a oe d hr c e e il te e m r if r e c r sa c rta ie a cr t is s t a e ic .• S pee u izr a aoe d A Ne c r s oic ns n leo a a p dr e udn t amr d r e D n ie a p sioe e egnm y s o e il c s t i idn icr a oe gnto qe s nigd s c r sa c rta d lpr n et apt ns ee s u et l o a ie a cr t is s ea e oa if r ic a a t a e ic s• Ls eta sn u s et ia 2 3 ee c ns e n f il l ca so s ile a vn j o qe e s d n o gnr ioe d uaa iaa ul sn ima s as u a m s e r gnta et y o lt t s pee idn icr s a c rta f ilet ee mn p r a o e udn et al cr t is sa mn ic e o n if a a e ic c e• Ls evn j sn u pee e dic o t e D Ae f mc n lic e 3 ms a ds ta o qe ud sr ifilb nr N in r aio c a n o a e as e o in gnr ioe ee c ns a• Ls n r eae crnrse r et e e psa ia d lv aPee t e l a ef mddsooa s pe n n n t a t d s ea id. udn e r s e ia s a a r n a cr t is a gnta s epea e no n o e c s l auo d ea md a c rt s ee sin xr r e l iñs inloo dls e dd eia a e ic ic ss s u s t
    6. 6. Et io d a cc n ee a s d s e s iaio gnt u o ic• N r u r d in r aio vr ad l f il o e ie n e f mc n e iclea a ia q e o t sm s• A qie n f mc n oizn lea pr ns o os l du r in r aio hrot d l e oa cn ina e o a s s ef mdd ua dd na ul ef mdd se vn n r ea a n ea e lcal n r ea e reat e a e l e• L ds n je qea vrc ns n e e oa f rd l a ev ta s u l a ioe et pr nsu a ea ea s ia r s e f il e t g ne u s r u r d et io d chr a ia sa r d qe e e ie e s d s e oot m n a q e u e g ne pre inr p s ila d cr lio aaa r ds a l al oibidd e ora n lzr a a im a ec• Ls n r eae crioa u r s dd sn e da sin a ef mddsa vs le in ua o hr it ia s e d ca s e r e br an os cncno gns u cnea et rs ma o u n e ooe l ee qe olvn s ieg g s l e o
    7. 7. Et io e gml S d sn e e s u o• Sno et io ms o e ss oqeo gml sn o l s d s a p dr o p ru l e e so s u o s o gnta et idn o ee mn et s ic e ic• E t r ss spr l gml y o c d s n if et n e ia i e ea no e e s sn r o e de n s o a s o ia r e a b n se ud a ibir n ef mdd f tr miet s pee t u ua n r ea aa oe e r e c s gnto. ee sic• E dic ds r r r ec d f tr qe o ifa l s ifilec t pe nia ea oe u m dicno aa s c s s f tr gnto a oe ee s c s ic
    8. 8. Mcnm s e n r eae eais o d ef mdds e gnta ee s ic• H r it iocn a duid e da ot A qiro e r r • C ad e hr it ios ecet n n leo a e o a l uno s e da e nun a e egnm d tds s e r r a cla dluro e l ece us p • C ad e aqiros ecet n n leo a ea cla uno s duid e nun a e egnm d l e l r s us qe e eee atid a c d u pr ncn l jo f t o t e ea • Eis n a c ns no gns u our e l xt vr ioe e l ee qe cr n na e ia s e e bioeeis pee pr e ef mdds e da sin mr gns y udn a cr n r eae hr it ia s e e e r e br l pde s ecet n in lr ioe gnta ma oo ar e nun a s ae c ns ee s g s s r ta ic
    9. 9. Mcnm s e n r eae eais o d ef mdds e gnta ee s ic• Ef mdds ooeics SP l n a n r eae M ngn a V . o eics e ig • M ngn a sn lr ioe e u slgn u cua l ooeicso ae c ns n n o e qe as a ta o n ef mdd n r ea e • P l n a Ef mdds u s r u r d mt ioe o eics n r eae qe e e ie n e u c ns ig e q e a d d s ms ee prcualef mdd e o o a gns a as a n r ea a r e
    10. 10. Mcnm s e n r eae eais o d ef mdds e gnta ee s ic• D l ae c ns ee a l ms r a n s e inca sno ea lr ioe gnt sa a pe l t pr ouso l s ta ic s ve e o s p l of o d u slnc oid o r m s e n o ul to im is o e • D ets o lgnr s r u r d p r mns u 1 d l e s p r ee le e ie e o l eo qe % ea o o a q e o p b c no eg prqe e ud dnm acm ua a n o lio lt a a u s pea eo inro o n vr t a n a ia e nr a oml • Smns e1 ltnn e t pe cm ua u c ne i eo dl% o iee s in rr a o o n mt io, n e t a epcluno e sc a neoip e pr u r seiacad s a ia u f to n a icl o n t a • P r gnr d hs u c ns o iee ae c ns us a u o l ee lica mt ioe n tnn lr ioe pet qe o a a ta o ml l cd ns o ifa prem m a inaid uip so oe cdicn a l is o m oc o te a
    11. 11. Mcnm s e n r eae eais o d ef mdds e gnta ee s ic• Ls u c ns udn cr e p sioe d ua o bs ( o t u tn) a mt ioe pee our n oic ns e n sl a p in mtios a ir a e a o n o b aio cn t s a s e cminc n o or bs a e • Et pee sr inc oid s rnc oid .” s s udn e “d ul to, t ul to a e i- e • Pee cmial bss sr rs b r rs udn a b r s a , ine aa o or l a e tl aa• H yeioe g ne qe o ine aa y b r ds n eioe qe o a r ns r ds u sn sr ds / or a e r ns u n g a t o a g cdicn s e c n s mniet A n os pee et ap ro p t o ifa y u f t o e aifs . u n e ud idn icr o cmlo eo a if e qe fy qe os mniet l ae c ns u inue u n e aifs na lr ioe l e s ta• H yeioe pqea qe e udn a b r r cm dr et oa nn a r ns euñs u s pee cmiao e o o ay s cs a g a o io df tsee s e be a n linrm d D er e d ne od hy e c svr . S o sr e esdo e e iG og n od d ne a eo o v e dl io d c m sm 2q1 rvcneoip s a iao cso e c n e r oo a 21 pooa f to cr cs lics e o n d a
    12. 12. Mcnm s e n r eae eais o d ef mdds e gnta ee s ic• Lsa b s o cmio epigeneticos sn a b s u n our e o cmio qe o cr n n e lbs pr r a pr our e znseu d r qe e a a apimr e cr n n oa r l oa u s e ia o e ga s ecet n o ec a ea eunia nun a p r nim d lscec r• E mlcsod rg la ió e ig n t ae lmt c n e j p lic ee u c n p e éic sa e aio d e o a il coins n l” ra e coin y un a itsa e “iss ics n itsa gain. , a
    13. 13. A odjgnm od b ra eo ic e e ef mdds n r eae e• Prp dr e e t pe r leo a u ao e t a n t n a a o e l r in rr aegnm hmn s u iz uae ic a e e t il c l aa e u n ia p r le sm s a ” e d ne e a e eA N e l d “Sc e c s aa la a iv s n od s “pr ” l D n am t ml l r ioe pqea l ca se o pr ua cn t s uip se ns euñsa ul s cma n nso or te g s e a a• P rila d A N et s u iz t nc ied A N a D y sp dr ef n o R - s e t ar s ib no R A N a o e e il a r i dt m aqe eunia rvc l mnet ioe e r inr u scec pooaa aif a ns e s sc• E t ae ia poe m a -s pee aa apoe a y e udn sr t g s rt o ic s e udn nl r rt s s pee iz in r t ad f m r rg d pridn icr l D qea po u . a r r eo ae or a a et aeA N u l rdj se r t a a if s e S e br et mtd e dic d r l r oqea poe a in ma o s e o s ifile e iz p ru l rt s g e o aa s in tnn uhs a c ns iee mca vr ioeia
    14. 14. o jivs e eo ic b to d gnm a e crioa u r a vs l d ca• Mj cs aio d gota e rlif c n ians o a ic ic • p r eiod ea inr s o p nn s e da se se p dr o md e xm al cmoet hr it io s epr o e o e e r a idn icr l pc n s e l- ieg. D etmnrs pee eicr et aao aiet d aors e s ae e ud dd a if s e t o a a myr r uss peeir obm r lae e ets aiet aoe e r a r n m ri- otidds n s pc n s s c o v a o e • U e mlqe s e poeod inetaio e pridn icr n j p u et n rcs e vs c n s a et a e o a ig a if pc n s o ef mdd ooa , r is nia la ira fl aiet cn n r ea crnr e t c aa s in ya e e ia s e p la criaa dc a o qim t aia a c inuid p r u ioe p d r • A t let s u izn s sen a pridn icr aiet e rs c a n e t a et t ics a et apc n s n ieg um e il a c a if e o d IMaerm ar afr c n uicl y inrme lg eA , nuis a ot , ibilio aru r sdo d QTa o ic a a r
    15. 15. o jivs e eo ic b to d gnm a e crioa u r a vs l d ca• Mj in r aio poota a gialt aia e r f mc n rns pr u r e p o o ic a a r • s pee et apc n s u r u r c r to e e ud idn icr aiet qe e ie n ie o ip d if e q e t t t iet oo qe e a a ee iams r a n l u s vn bnf r a am o s ic • e mlsr e pc n s u t ie n nA y u et e j p e n aiet qe u r u IM qe s n n e o ia e v o e rs d ds rl inu iec criaa ieg e ea oa sf nia a c o rl r ic d • s o sr myr t aio d et t n a e p ad s e e be a ao u izc n e s se ics ml noe n v il a c e fmct aiaU e mlsr euod wrra l e c s a aoe p . n j p e ls e aa yo f t r r e o ia fin s eo qe iee no pc n s a b n n ls d atg gn s u tn e l aiet . Tmie e euo e n r at s e ia e e p qe r s o md d l corm s 40. l ut io p r eio eo itc o p5s a a s o
    16. 16. o jivs e eo ic b to d gnm a e crioa u r a vs l d ca• S pee idn icr uvsr a iets e udn et aneo t t n if am o • aa ad d mnraeud lptf l ia o cl nl no e ae dcaaa a is o m l u r iz a o io g e a d l ef mddsa ioa u r pee auaa ea n r eae cr vs le udn ydr s e d ca s idn icre p s seifa prl pdc iets et at aia epcics a o aeim n if r a s o
    17. 17. G nm a e n r eae eo ic d ef mdds e pl n a o eics ig• H y v ec d myrieg d eet crioa u r e pc n s a eidnia e ao rs e vn s a vs le n aiet o a d ca s e cna il e qe aa t id d hs vn s o f ia s u hyn e o ico eet m r n o• H y ao rs d ef mdd ooa e pc n s u tnn n a myrieg e n r ea crnr n aiet qe iee u o e ia e f il d pimrr o u hy t id u IM n s eo 5 ao a ia e r e g d qe aae o nA at d l 5 ñs m r a n e s d ea, hs d 7 ee ms e dd a a e vcs a t• S h t id eit idn icno n r eae m ngn a cm l e ae o xo et ad ef mdds ooeics o oo n if e sn d o- a ino- heS QTpo nao crio io a o S W l r sn it d f k P W , rl gd o a m pt o d ia h e rfa ipro . t ic• N s h l r o b nr f mc n o r ef mdds o eics o e ao a o t e in r aio sbe n r eae p l n a gd e o e ig
    18. 18. G nm a e n r eae eo ic d ef mdds e pl n a o eics ig• S u izn s d s eo ind s su io a o ia o a g n m e e t a et io dnm ao e t d s sc d s l e o a n il u d ne e t a mr d r d aa es a e td egnm pr od s u izn a aoe e l dnidd n o o leo a a il c s t a idn icroa qe rdcn n r ea et azns u po ue ef mdd if e• S u izn o lioe d pc n s e ao cn a y e t a e t a p b c ns e aiet d myrat d s u izn il a e id il cmu d r praa al hl gs n egnm o o pt oa a nl r s a zo a ivleo ic a s a iz o l a• A t let s etu ad ett n a a aa ag ne c a n e s l no s e ic pr nl rr ds um e a iz a c a iz a p b c ns ecn avrn s oml e egnm o lioe y not ra t nr a s n leo a a r ia e e• S et a u s pda ecn almyr d l vrn s oml e s qe e or not r aoia ea a t nr a s im n r a s ia e e e l su n s a 0 ñs no igiet 5 1 ao s e
    19. 19. G nm a a ioa u rc a eo ic cr vs l at l d ca u• Lsigiet sn o su n so e cnets a o qe ocp bs s u o ic db d s e u ee e a r n b C rio g a lo d o
    20. 20. G nm a a ioa u rc a eo ic cr vs l at l d ca u• Ef mdds ooeics n r eae M ngn a e • Ems o u e esdo e e lg cn u vrn s l a cmn s linrm d QTa o o ss a t r ia e gnta cnc a ee s ooids ic • S o sr n u c ns n gns eo cnl criao e be a mt ioe e 5 ee d l aa s a cs v a s e d l ca so r p nal hs d u 7%d l css e o ul sn e os e a a e n 5 eo a d s e s bs t s o QTlg f il a o a ia r m r • D pnied d lae c n ee a s laacriao eed no ea lr io gnt e ecnla c ta ic d qe e f t( oa , sd , e .) u s a c p t io o io t ea s c
    21. 21. S do e lginrm QTa o r
    22. 22. G nm a a ioa u rc a eo ic cr vs l at l d ca u• C rio io a H e rfa a m pt ipro d ia t ic • D sre cmn not noe n .2 d lp b c n eodn o u ecn ad s e 0 % ea o lio r a • P r gnr e hr it ioc oatsm od m at cm ua n r ea dl o l ee ls e da m u o ic o inn o o n ef mdd e o a e r o e e s cmr; s hn et aoms e 5 mt ioe de n s a o e e a idn icd a d 40 u c ns if et r o if a r e • Ls u c ns a cmnso e lcdn ps a e e - ioin ( 4 d l a mt ioe mso ue sn na aea ea d btm sa4% eo a d a s css a ) o • Poiea uid a ioin ( 5 ) rtn C n a m sa3% • To oin Tcriaaip 2 7 )d l css rp n a a c to ( % eo a d s o • Mr d r d mlrns of tr m r l ics lics gnto a aoe e apoot : a oe ofo o, c o y ee s c s ic c s og in ic
    23. 23. G nm a a ioa u rc a eo ic cr vs l at l d ca u• C rio io a h e rfa a m pt ipro d ia t ic • S h a cd myr c ec d me e uite mt ioe d l e a s iao ao inidnia e ur sba n u c ns ea o t a cdn ps a e e - ioin aea ea d btm sa d a • Mt ioe e lTo oin Tcriaa e sc a ur sba u u c ns na rp n a a c s a ia me e uitan a d o t cad hy oa ipro dlet u izu ro uno a p c h e rf evn icl qie t ia r o d • H y aiet qe iee ms e n mt io a pc n s u tnn a d ua u c n e a • A rx 0 d l pc n s o h e rf criaa in as idn icb po 5% eo aiet cn ipro a c s cua et al s e t ia d if e n tnn lr ioe gnta qe uie n icopdc iet o iee ae c ns ee s u sg r d h aeim n ta ic e o
    24. 24. G nm a a ioa u rc a eo ic cr vs l at l d ca u• Ef mdd ooa n r ea C rnr e ia • H y uip s ee qe ot ue ars dlaiet a ml l gns u cn ibyn l g epc n te r ie o e • E92 e u mr d r uv idn icd prqe p a ao lp1 s n a ao neo et ao a u iml myr c if a ic rs prds rl IM n olio Erpa ieg a ea oa A e pb c n uoe o a rl r a • Pc n s o oigtsiee u rs a ibib prIM n aiet hm coo tnn n ieg t u l a A e e o r e a 2%a ul ie ea y 1 prIM r a r 1 ca u r dd 3% a A pe t o q a mu • H t oigtsiee u amn d rs dl5 2%d e rcoo tnn n u et e ieg e1 a 0 e e o o IM A
    25. 25. G nm a a ioa u rc a eo ic cr vs l at l d ca u• Fr aoeo ic crioa u r a cgnm a a vs l m d ca • S u iz piniplet pret t iet pr nl d idn icno e t a rc a n a l a m n e oa ao et ad il m e a ra o s iz if pc n s u n sn ep neoe or p neoe tx o a aiet qe o o r odd r e s s e odd r oics l s s t t iet y vao r a n eit l am o r • Pee a r n l e b l od c r s rgs c ynos e inc n ud vr e emt o m e ie a doa inl ed u l aio ia a is t u im • E mlcsosna vrn s ecorm p5 y ls d W rra j p lic o l a t dlitc o 40 euo e aa e o a s ia e o fin • Ls rea fmcl icse udn t apret l e ua ois a pubsa ao ga s pee u izr a s b cr n d s r o il a ae aeud y sd m u l rs s lcn a d et io d l oa r dcaa a is inir sieg ya at d e s d s ea r oio i o o id u b t qe e aa u s hgn
    26. 26. Po l a e o rb ms t s e ic• Ls rb ms to sr n lnl r l pc n sao o po l a e sug aaa aao aiet s s e ic e iz s e n e d ne e ud dt m astn myrieg prua n od s pea e r inri iee ao rs a n e o a ef mdd a ioa u r n r ea cr vs l e d ca• Pr ns udn bs d et ya pr ns udn ee e oa pee aua e s l e oa pee t r s r o s s n dicld a o t e e p ooinloprcneu ifua pr b nr ml t a e e c s a osgir u a sgr d gs s eics euo e a o md o. t
    27. 27. Ft od lgnm a n n r eae u r ea eo ic e ef mdds u e crioa u r a vs le d ca s• Ls b to pinipl sn et apc n s e l o o jivs rc a so idn icr aiet d ao e e if e t rs pref mddsa ioa u r y u ieg a n r eae cr vs le ss o a e d ca s cml c ns o p aioe ic• D s rl t aiaa ao ga seifa a pr nl r ea oa e p fmcl ic epcic pr e oa a rl r r r o a s iz t t iet cno pc n s r a n o l aiet am o s e

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