196:
351:, can be one way to ease symptoms in more severe cases. However, for a majority of people, the benefits from such treatments are only temporary. There is currently no treatment available to address the proximal limb weakness. Many of those affected with the proximal limb weakness will eventually require assistive devices such as canes, braces or a wheelchair. As with all surgical procedures, they come with many risk factors. As the dysphagia becomes more severe, patients become malnourished, lose significant weight, become dehydrated and suffer from repeated incidents of aspiration pneumonia. These last two are often the cause of death.
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Trollet, Capucine; Gidaro, Teresa; Klein, Pierre; Périé, Sophie; Butler-Browne, Gillian; Lacau St Guily, Jean (1993-01-01). Pagon, Roberta A.; Adam, Margaret P.; Ardinger, Holly H.; Wallace, Stephanie E.; Amemiya, Anne; Bean, Lora J.H.; Bird, Thomas D.; Fong, Chin-To; Mefford, Heather C. (eds.).
1973:
176:
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Malerba, A.; Klein, P.; Bachtarzi, H.; Jarmin, S. A.; Cordova, G.; Ferry, A.; Strings, V.; Espinoza, M. Polay; Mamchaoui, K.; Blumen, S. C.; St Guily, J. Lacau; Mouly, V.; Graham, M.; Butler-Browne, G.; Suhy, D. A.; Trollet, C.; Dickson, G. (31 March 2017).
175:
209:
1016:
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Gómez-Torres, Antonio; Abrante Jiménez, Antonio; Rivas
Infante, Eloy; Menoyo Bueno, Alicia; Tirado Zamora, Isabel; Esteban Ortega, Francisco (November 2012). "Cricopharyngeal Myotomy in the Treatment of Oculopharyngeal Muscular Dystrophy".
1966:
185:
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1959:
145:. The most common inheritance of OPMD is autosomal dominant, which means only one copy of the mutated gene needs to be present in each cell. Children of an affected parent have a 50% chance of inheriting the mutant gene.
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can assist with mild symptoms of dysphagia. Surgical intervention can also help temporarily manage symptoms related to the ptosis and dysphagia. Cutting one of the throat muscles internally, an operation called
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Autosomal dominant inheritance is the most common form of inheritance. Less commonly, OPMD can be inherited in an autosomal recessive pattern, which means that two copies of the mutated
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Though the aforementioned signs/symptoms are the most common, there have been cases though rare, where the peripheral nervous system has had involvement with significant reduction of
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Davies, Janet E.; Berger, Zdenek; Rubinsztein, David C. (January 2006). "Oculopharyngeal muscular dystrophy: Potential therapies for an aggregate-associated disorder".
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Hill, M. E.; Creed, G. A.; McMullan, T. F. W.; Tyers, A. G.; Hilton-Jones, D.; Robinson, D. O.; Hammans, S. R. (1 March 2001). "Oculopharyngeal muscular dystrophy".
181:
306:, which are a variant form of a gene involved in this form of MD are: PABPN1, (GCG)n EXPANSION, (GCG)8-13, PABPN1, (GCG)n EXPANSION, (GCG)7 and PABPN1, GLY12ALA.
160:
repeat at the 5' end of the coding region, and expansion of this repeat which then leads to autosomal dominant oculopharyngeal muscular dystrophy (OPMD) disease.
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Currently no cure or specific treatment exists to eliminate the symptoms or stop the disease progression. A consistent diet planned with the help of a
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829:"Oculopharyngeal muscular dystrophy | Disease | Your Questions Answered | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program"
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for GCG trinucleotide expansions in the PABPN1 gene. The genetic blood testing is more common. Additionally, a distinction between OPMD and
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708:"Oculopharyngeal muscular dystrophy: Recent advances in the understanding of the molecular pathogenic mechanisms and treatment strategies"
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need to be present in each cell, both parents need to be carriers of the mutated gene, and usually show no signs or symptoms. The
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128:) is a rare form of muscular dystrophy with symptoms generally starting when an individual is 40 to 50 years old. It can be
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363:, with a prevalence 1:1000. OPMD affects males and females equally, and affected individuals have been found in Europe (
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In terms of the signs (and symptoms) of oculopharyngeal muscular dystrophy would be consistent with the following:
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The expansion caused by the mutations on the PABPN1 gene ultimately interrupts the cellular mechanics of poly(A)
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413:"Oculopharyngeal muscular dystrophy | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program"
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are shown in this image of the left eye (lateral view). Click on the structures for more information.
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cases, this muscular dystrophy is severe and starts earlier in the affected individuals life.
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The diagnosis of oculopharyngeal muscular dystrophy can be done via two methods, a
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The disease is found across 5 continents (30 countries) and is frequently seen in
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gene. This gene suffers mutations that cause the PABPN1 protein to have extra
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530:"OMIM Entry - * 602279 - POLYADENYLATE-BINDING PROTEIN, NUCLEAR, 1; PABPN1"
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must be made, in regards to the differential diagnosis of this condition.
1663:
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153:
295:. In most cases oculopharyngeal muscular dystrophy is inherited via
863:"Oculopharyngeal muscular dystrophy as a paradigm for muscle aging"
612:
529:
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The genetics of this type of muscular dystrophy revolve around the
2059:
613:"OMIM Entry - # 164300 - OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD"
267:
167:
1997:
1982:
Disorders of transcription and post transcriptional modification
1036:
715:
Biochimica et
Biophysica Acta (BBA) - Molecular Basis of Disease
288:), this manifests itself physically in the symptoms of this MD.
149:
1955:
1339:
1127:
292:
773:"PABPN1 gene therapy for oculopharyngeal muscular dystrophy"
673:
567:"PABPN1 poly(A) binding protein, nuclear 1 "]11 OCT 2014.
998:
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2012:
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1002:
460:. Seattle (WA): University of Washington, Seattle.
111:
101:
93:
83:
63:
37:
32:
706:Abu-Baker, Aida; Rouleau, Guy A. (February 2007).
171:
1967:
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1139:
8:
946:Acta Otorrinolaringologica (English Edition)
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999:
74:
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29:
888:
878:
804:
55:Autosomal dominant in majority of cases (
18:Oculopharyngeal muscular dystrophy (OPMD)
401:
575:
573:
558:https://www.ncbi.nlm.nih.gov/gene/8106
524:
522:
861:Raz, Yotam; Raz, Vered (2014-01-01).
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407:
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7:
1232:National/International Organizations
581:"Oculopharyngeal muscular dystrophy"
498:"oculopharyngeal muscular dystrophy"
41:Muscular dystrophy, oculopharyngeal
423:from the original on 3 January 2018
239:Aspiration pneumonia (complication)
2028:Oculopharyngeal muscular dystrophy
1619:BIN1-linked centronuclear myopathy
1115:Oculopharyngeal muscular dystrophy
1083:Oculopharyngeal Muscular Dystrophy
981:Oculopharyngeal muscular dystrophy
457:Oculopharyngeal Muscular Dystrophy
122:Oculopharyngeal muscular dystrophy
115:Orthopedic devices for management
33:Oculopharyngeal muscular dystrophy
25:
1900:Testosterone deficiency myopathy
1408:Lambert–Eaton myasthenic syndrome
593:from the original on 9 March 2021
342:along with exercises taught by a
1856:Kocher–Debre–Semelaigne syndrome
1505:Limb-girdle muscular dystrophy 2
1462:Limb-girdle muscular dystrophy 1
1320:
1319:
1097:
867:Frontiers in Aging Neuroscience
752:from the original on 2020-05-21
653:from the original on 2020-05-16
623:from the original on 2021-05-08
540:from the original on 2021-05-03
508:from the original on 2020-09-24
472:from the original on 2021-03-09
1797:Fatty-acid metabolism disorder
1420:Congenital myasthenic syndrome
1239:Muscular Dystrophy Association
1206:Limb–girdle muscular dystrophy
1:
1909:Hypogonadotropic hypogonadism
1265:National/International Events
1250:Myotonic Dystrophy Foundation
2097:Autosomal dominant disorders
958:10.1016/j.otoeng.2012.11.009
727:10.1016/j.bbadis.2006.10.003
685:10.1016/j.biocel.2006.01.016
97:Mutations on the PABPN1 gene
2113:
641:Reference, Genetics Home.
496:Reference, Genetics Home.
1886:Hyperparathyroid myopathy
1315:
1245:Muscular Dystrophy Canada
833:rarediseases.info.nih.gov
417:rarediseases.info.nih.gov
54:
45:
1881:Hypoparathyroid myopathy
1792:Glycogen storage disease
880:10.3389/fnagi.2014.00317
156:mutation contains a GCG
2065:Retinitis pigmentosa 13
2053:Retinitis pigmentosa 11
1904:Late-onset hypogonadism
1895:Corticosteroid myopathy
1613:adaptor protein disease
920:10.1093/brain/124.3.522
647:Genetics Home Reference
502:Genetics Home Reference
349:cricopharyngeal myotomy
1807:Mitochondrial myopathy
1700:Paramyotonia congenita
1372:neuromuscular junction
328:mitochondrial myopathy
273:
216:
1932:Inflammatory myopathy
1376:neuromuscular disease
777:Nature Communications
318:or a blood draw with
271:
211:
136:neuromuscular disease
1989:Chromatin remodeling
1745:Central core disease
1627:cytoskeleton disease
1307:Stamulumab (MYO-029)
1280:(defunct; US/Canada)
1937:Congenital myopathy
1914:Androgen deficiency
1874:Thyrotoxic myopathy
1472:Facioscapulohumeral
1201:Facioscapulohumeral
797:10.1038/ncomms14848
789:2017NatCo...814848M
230:extraocular muscles
213:Extraocular muscles
57:autosomal recessive
2087:Muscular dystrophy
1783:Metabolic myopathy
1709:Periodic paralysis
1671:Myotonia congenita
1439:Muscular dystrophy
1278:Labor Day Telethon
1155:Muscular dystrophy
1069:External resources
563:2021-05-07 at the
385:Muscular dystrophy
274:
217:
164:Signs and symptoms
2074:
2073:
1949:
1948:
1945:
1944:
1861:Hoffmann syndrome
1753:
1752:
1633:Nemaline myopathy
1572:
1571:
1403:Myasthenia gravis
1333:
1332:
1255:Muskelsvindfonden
1092:
1091:
643:"What is a gene?"
324:myasthenia gravis
119:
118:
103:Diagnostic method
27:Medical condition
16:(Redirected from
2104:
1976:
1969:
1962:
1953:
1891:Hypercortisolism
1802:AMPD1 deficiency
1758:ATPase disorder
1660:
1591:Bethlem myopathy
1585:collagen disease
1577:Other structural
1450:
1435:
1388:junction disease
1360:
1353:
1346:
1337:
1323:
1322:
1174:Dystrophinopathy
1148:
1141:
1134:
1125:
1101:
1100:
1000:
977:
939:
902:
892:
882:
848:
847:
845:
844:
835:. Archived from
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767:
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679:(9): 1457–1462.
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361:French Canadians
344:speech therapist
228:Weakness of the
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30:
21:
2112:
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2107:
2106:
2105:
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2033:
2014:Polyadenylation
2008:
2003:CHARGE syndrome
1983:
1980:
1950:
1941:
1920:
1836:
1777:
1749:
1733:
1703:
1693:Isaacs syndrome
1676:Thomsen disease
1644:
1568:
1531:
1486:
1467:Oculopharyngeal
1441:
1424:
1386:
1378:
1364:
1334:
1329:
1311:
1300:Clinical trials
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1272:MDA Muscle Walk
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1223:Oculopharyngeal
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855:Further reading
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1842:Endocrinopathy
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1681:Becker disease
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1564:Emery–Dreifuss
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1525:Walker–Warburg
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1384:Neuromuscular-
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1196:Emery-Dreifuss
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1003:Classification
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995:External links
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978:
952:(6): 465–469.
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914:(3): 522–526.
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721:(2): 173–185.
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2092:Rare diseases
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1769:Brody disease
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1688:Neuromyotonia
1686:
1682:
1679:
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1654:(ion channel)
1653:
1652:
1651:
1650:Channelopathy
1647:
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1508:
1506:
1503:
1501:
1500:Calpainopathy
1498:
1497:
1495:
1493:
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1483:
1482:Distal (most)
1480:
1478:
1475:
1473:
1470:
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1413:Neuromyotonia
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1211:Calpainopathy
1209:
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1199:
1197:
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1018:
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1005:
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989:Rare Diseases
987:'s Office of
986:
982:
979:
975:
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839:on 2016-08-03
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325:
321:
317:
316:muscle biopsy
309:
307:
305:
300:
298:
294:
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283:
279:
270:
263:
261:
259:
254:
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245:limb weakness
244:
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231:
227:
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222:
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220:
214:
170:
163:
161:
159:
158:trinucleotide
155:
151:
146:
144:
141:
137:
134:
131:
127:
123:
114:
110:
107:Muscle biopsy
106:
104:
100:
96:
92:
88:
86:
82:
77:
71:
68:
66:
62:
58:
53:
49:
44:
40:
36:
31:
19:
2058:
2046:
2039:RNA splicing
2027:
2021:
1996:
1868:Hyperthyroid
1729:Hyperkalemic
1625:
1611:
1605:X-linked MTM
1597:
1583:
1544:
1466:
1395:
1366:Diseases of
1290:Grøn Koncert
1222:
1113:
1112:
1111:profile for
1108:
1076:
1052:
1041:
1030:
1015:
949:
945:
911:
907:
870:
866:
841:. Retrieved
837:the original
832:
823:
780:
776:
765:
754:. Retrieved
718:
714:
701:
676:
672:
666:
655:. Retrieved
646:
636:
625:. Retrieved
617:www.omim.org
616:
607:
595:. Retrieved
553:
542:. Retrieved
534:www.omim.org
533:
510:. Retrieved
501:
474:. Retrieved
456:
425:. Retrieved
416:
358:
355:Epidemiology
337:
313:
301:
290:
275:
255:
248:
218:
212:
147:
125:
121:
120:
1850:Hypothyroid
1717:Hypokalemic
1599:PTP disease
1078:GeneReviews
481:update 2014
375:Americans.
299:dominance.
286:amino acids
38:Other names
2081:Categories
1761:(ion pump)
1722:Thyrotoxic
1638:Zaspopathy
1546:dystrophin
1510:Congenital
1397:autoimmune
1284:DĂ©crypthon
1169:Congenital
1054:DiseasesDB
843:2016-05-29
756:2019-09-02
657:2016-05-29
627:2016-05-29
544:2016-05-29
512:2016-05-28
476:2017-09-07
396:References
258:homozygous
251:myelinated
1870:myopathy
1852:myopathy
1292:(Denmark)
1257:(Denmark)
966:2173-5735
928:0006-8950
783:: 14848.
427:3 January
340:dietitian
334:Treatment
310:Diagnosis
297:autosomal
235:Dysphagia
143:recessive
140:autosomal
130:autosomal
112:Treatment
89:Dysphagia
70:Neurology
65:Specialty
59:minority)
1664:Myotonia
1557:Duchenne
1552:Becker's
1515:Fukuyama
1477:Myotonic
1430:Myopathy
1325:Category
1286:(France)
1218:Myotonic
1184:Duchenne
1179:Becker's
974:22898142
936:11222452
899:25426070
815:28361972
747:Archived
743:20281205
735:17110089
693:16530457
651:Archived
621:Archived
588:Archived
561:Archived
538:Archived
506:Archived
470:Archived
466:20301305
421:Archived
379:See also
264:Genetics
253:fibers
243:Proximal
133:dominant
85:Symptoms
1925:General
1790:Muscle
1520:Ullrich
1105:Scholia
1048:D039141
890:4226162
873:: 317.
806:5380963
785:Bibcode
373:Spanish
304:alleles
282:alanine
2048:PRPF31
2023:PABPN1
1773:ATP2A1
1374:, and
1368:muscle
1191:Distal
1107:has a
1037:164300
972:
964:
934:
926:
897:
887:
813:
803:
741:
733:
691:
597:28 May
464:
390:PABPN1
369:Jewish
365:France
278:PABPN1
224:Ptosis
154:PABPN1
94:Causes
72:
2060:PRPF8
1831:MNGIE
1816:MERRF
1811:MELAS
1738:Other
1162:Types
1109:topic
1059:29869
1026:G71.0
908:Brain
750:(PDF)
739:S2CID
711:(PDF)
591:(PDF)
584:(PDF)
272:PABN1
1998:CHD7
1444:DAPC
1274:(US)
1241:(US)
1043:MeSH
1032:OMIM
970:PMID
962:ISSN
932:PMID
924:ISSN
895:PMID
811:PMID
731:PMID
719:1772
689:PMID
599:2016
462:PMID
429:2018
302:The
150:gene
126:OPMD
1826:PEO
1821:KSS
1017:ICD
985:NIH
983:at
954:doi
916:doi
912:124
885:PMC
875:doi
801:PMC
793:doi
723:doi
681:doi
367:),
326:or
293:RNA
256:In
138:or
2083::
1537:XR
1492:AR
1454:AD
1370:,
1081::
1057::
1046::
1035::
1024::
1021:10
968:.
960:.
950:63
948:.
930:.
922:.
910:.
893:.
883:.
869:.
865:.
831:.
809:.
799:.
791:.
779:.
775:.
745:.
737:.
729:.
717:.
713:.
687:.
677:38
675:.
649:.
645:.
619:.
615:.
586:.
572:^
536:.
532:.
521:^
504:.
500:.
486:^
468:.
437:^
419:.
415:.
404:^
2067:)
2063:(
2055:)
2051:(
2030:)
2026:(
2005:)
2001:(
1975:e
1968:t
1961:v
1833:)
1809:(
1775:)
1771:(
1446:)
1442:(
1359:e
1352:t
1345:v
1147:e
1140:t
1133:v
1119:.
1019:-
1009:D
976:.
956::
938:.
918::
901:.
877::
871:6
846:.
817:.
795::
787::
781:8
759:.
725::
695:.
683::
660:.
630:.
601:.
547:.
515:.
479:.
431:.
284:(
124:(
20:)
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