All individuals with variants in gene EMD

191 entries on 2 pages. Showing entries 1 - 100.
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00050693 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - ? drooling, unsteady gait, abnormal facial shape, lactose intolerance 1 1 Johan den Dunnen
00183135 25644381-FamMRX75/D13 PubMed: Hu 2016 family, 1 affected, 4 unaffected heterozygous carrier females M - - - - 0 - - MRX;IDX - 1 1 Johan den Dunnen
00183137 25644381-FamAU29 PubMed: Hu 2016 family, 2 affected, 1 unaffected heterozygous carrier female M - - - - 0 - - MRX;IDX - 1 2 Johan den Dunnen
00215997 - PubMed: Manilal, PubMed: Muntoni 4 generation family (case 1) M - United Kingdom (Great Britain) - - 0 - - EDMD - 1 1 Johan den Dunnen
00215999 09384614-PatAB PubMed: Small 1998 - M - United States - - 0 - - EDMD - 1 1 Johan den Dunnen
00216000 - PubMed: Fujimoto - M - Japan - - 0 - - EDMD - 1 1 Johan den Dunnen
00216001 - PubMed: Small - - - United States - - 0 - - EDMD - 1 1 Johan den Dunnen
00216002 - EMD-Wehnert, 1998 3 brothers, full gene deletion - - Germany - - 0 - - EDMD - 1 3 Johan den Dunnen
00216003 - EMD-Muller, 1996 gene deletion - - Germany - - 0 - - EDMD - 1 1 Johan den Dunnen
00216004 Pat6 PubMed: Funakoshi 1999 - M - Japan - >8y 0 - - EDMD - 1 1 Johan den Dunnen
00216005 - PubMed: Small large inversion incl. FLNA + EMD between two 11.3Kb inverted repeats (99% sequence identity) - - - - - 0 - - ? - 1 1 Johan den Dunnen
00216006 19377476.EMD.16 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - M - - - - 0 - - ID intellectual disability (HP:0001249) 1 1 Johan den Dunnen
00216007 Fam1 PubMed: Nevo 2001 3 affected siblings - - Israel - - 0 - - EDMD - 1 3 Johan den Dunnen
00216008 Pat6/Fam1 PubMed: Yates, PubMed: Yates, PubMed: de Koning Gans - M - Scotland - - 0 - - EDMD - 1 1 Ieke Ginjaar
00216009 - Tverskaya ESHG2006 P0740 - M - Russia - - 0 - - EDMD - 1 1 Svetlana Tverskaya
00216010 - PubMed: Bione 2 brothers M - Germany - - 0 - - EDMD - 1 2 Johan den Dunnen
00216011 - EMD-Kaplan, 1998 - - - United Kingdom (Great Britain) England - 0 - - EDMD - 1 1 Johan den Dunnen
00216012 - PubMed: Buckley 1999 - - - United Kingdom (Great Britain) - - 0 - - EDMD - 1 1 Johan den Dunnen
00216013 - PubMed: Klauck 1995, PubMed: Yates, PubMed: Ellis 1998, PubMed: Johnston, PubMed: Yates, OMIM:var0006 - M - Scotland - - 0 - - EDMD - 1 1 Johan den Dunnen
00216014 FamL1/3193 PubMed: Manilal, PubMed: Manilal - M - United Kingdom (Great Britain) - - 0 - - EDMD - 1 1 Johan den Dunnen
00216015 - PubMed: Nevo 1999 3 affecteds M - United States - >18y 0 - - EDMD cardiac problems, pacemaker; CPK elevated (HP:0003236) 830 1 3 Johan den Dunnen
00216016 - PubMed: Bione, PubMed: Romeo, OMIM:var0004 - M - Italy - - 0 - - EDMD - 1 1 Johan den Dunnen
00216017 - PubMed: Manilal maternal carrier grandmother - - Germany - - 0 - - ? - 1 1 Johan den Dunnen
00216018 - PubMed: Wulff - - - Germany - - 0 - - ? - 1 1 Johan den Dunnen
00216019 - PubMed: Manilal - M - France - - 0 - - EDMD - 1 1 Johan den Dunnen
00216020 Pat9/FamP PubMed: Yates, PubMed: Yates, PubMed: Hausmanowa-Petrusewicz, PubMed: Markiewicz 2002 - - - Poland - - 0 - - EDMD - 1 1 Johan den Dunnen
00216021 - EMD-Toniolo, 1996 - - - Italy - - 0 - - EDMD - 1 1 Johan den Dunnen
00216022 Pat1/2 PubMed: Markiewicz 2002, Yates 1996, PubMed: Fidzianska 2003, PubMed: Fidzianska 3 brothers - - Poland - - 0 - - EDMD - 1 2 Johan den Dunnen
00216023 - EMD-D.Toniolo, 1998 - - - Italy - - 0 - - EDMD - 1 1 Johan den Dunnen
00216024 - PubMed: Ellis, EMD-Muller, 1996 - - - Germany - - 0 - - EDMD - 1 1 Johan den Dunnen
00216025 - UMD: Wehnert unpublished - - - Germany - - 0 - - EDMD - 1 1 Johan den Dunnen
00216026 - EMD-Kaplan, 1998 - M - France - - 0 - - EDMD - 1 1 Johan den Dunnen
00216027 Pat10 PubMed: Yates - M - United Kingdom (Great Britain) - - 0 - - EDMD - 1 1 Johan den Dunnen
00216028 - EMD-Toniolo, 1996 - - - Germany - - 0 - - EDMD - 1 1 Johan den Dunnen
00216029 Fam2 PubMed: Nevo 2001 3 affected siblings family - - Israel - - 0 - - EDMD - 1 3 Johan den Dunnen
00216030 Fam1 PubMed: Canki-Klain 2000 6 affecteds, 4 generation family - - Yugoslavia - >23y 0 - - EDMD cardiac problems 1 6 Johan den Dunnen
00216031 Pat11 PubMed: Yates - M - United Kingdom (Great Britain);United States - - 0 - - EDMD - 1 1 Johan den Dunnen
00216032 Pat12/FamA PubMed: Yates, PubMed: Deymeer, PubMed: Yates - M - Turkey - - 0 - - EDMD - 1 1 Johan den Dunnen
00216033 Pat13 PubMed: Yates - M - Poland - - 0 - - EDMD - 1 1 Johan den Dunnen
00216034 Pat19a EMD-Toniolo, 1996 - - - Poland - - 0 - - EDMD - 1 1 Johan den Dunnen
00216035 - EMD-Toniolo, 1998 - M - Italy - - 0 - - EDMD - 1 1 Johan den Dunnen
00216036 - PubMed: Bione, OMIM:var0002 - M - Italy - - 0 - - EDMD - 1 1 Johan den Dunnen
00216037 Pat3 PubMed: Markiewicz 2002 - M - Poland - - 0 - - EDMD - 1 1 Johan den Dunnen
00216038 - - - M - Russia - - 0 - - LGMD - 1 1 Svetlana Tverskaya
00216039 - PubMed: Bione 2 brothers M - Germany - - 0 - - EDMD - 1 2 Johan den Dunnen
00216041 - PubMed: Wulff - M - Germany - - 0 - - EDMD - 1 1 Johan den Dunnen
00216042 - PubMed: Manilal, PubMed: Hoeltzenbein, OMIM:var0010 2 affected brothers M - Germany - - 0 - - EDMD - 1 2 Johan den Dunnen
00216043 - PubMed: Hoeltzenbein 2 affected brothers M - Germany - - 0 - - EDMD - 1 2 Johan den Dunnen
00216044 - PubMed: Nevo 1999 3 affecteds M - United States - >12y 0 - - EDMD CPK elevated (HP:0003236) 1300 1 3 Johan den Dunnen
00216045 - EMD-Yates, 1998 2 brothers - - Ireland - - 0 - - EDMD - 1 1 Johan den Dunnen
00216046 - EMD-Toniolo, 1998 - - - Poland - - 0 - - EDMD - 1 1 Johan den Dunnen
00216047 - PubMed: Manilal symptomatic carrier mother (skewed Xi) - - - - - 0 - - EDMD - 1 1 Johan den Dunnen
00216048 - EMD-Kress, 1998 - M - Germany - - 0 - - EDMD - 1 1 Johan den Dunnen
00216049 - Wehnert (2000) Hum.Genet. 105:151 - - - - - - 0 - - EDMD - 1 1 Johan den Dunnen
00216050 - PubMed: Bione, PubMed: Yates, PubMed: Waters, PubMed: Hopkins, PubMed: Consalez Virginia M - United States - - 0 - - EDMD - 1 1 Johan den Dunnen
00216051 - PubMed: Nevo 1999 2 affected brothers M - United States - >40y 0 - - EDMD caridiac problems, pace maker; CPK elevated (HP:0003236) 2727 1 2 Johan den Dunnen
00216052 - PubMed: Bione, OMIM:var0005 - M - Turkey - - 0 - - EDMD - 1 1 Johan den Dunnen
00216053 Pat15 PubMed: Yates - M - United Kingdom (Great Britain) England - 0 - - EDMD - 1 1 Johan den Dunnen
00216054 Pat16/Y1 PubMed: Yates, PubMed: Ellis 1998, {PMID13724309 :Dreifuss}, PubMed: Emery, PubMed: Emery - M - United States - - 0 - - EDMD - 1 1 Johan den Dunnen
00216055 Pat2 PubMed: Yates - M - Wales - - 0 - - EDMD - 1 1 Johan den Dunnen
00216056 Pat19a PubMed: Mora - M - France - - 0 - - EDMD - 1 1 Johan den Dunnen
00216057 - PubMed: Manilal, PubMed: Yates, PubMed: Paquis - M - France - - 0 - - EDMD - 1 1 Johan den Dunnen
00216058 Pat5 PubMed: Funakoshi 1999 - M - Japan - >23y 0 - - EDMD cardiac problems, pacemaker; CPK elevated (HP:0003236) 690 1 1 Johan den Dunnen
00216059 - PubMed: Wulff - - - Germany - - 0 - - EDMD - 1 1 Johan den Dunnen
00216060 - PubMed: Wulff, PubMed: Wulff 1997 - M - Germany - - 0 - - EDMD - 1 1 Johan den Dunnen
00216061 - PubMed: Manilal - M - Germany - - 0 - - EDMD - 1 1 Johan den Dunnen
00216062 - PubMed: Manilal, PubMed: Muntoni 4 generation family (case 2) M - United Kingdom (Great Britain) - - 0 - - EDMD - 1 1 Johan den Dunnen
00216063 Pat1/Pat8 PubMed: Kubo, PubMed: Funakoshi 1999 mother carrier M - Japan - >10y 0 - - EDMD RSS; CPK elevated (HP:0003236) 849 1 1 Johan den Dunnen
00216064 - PubMed: Manilal, PubMed: Yates, PubMed: Hodgson, {PMID1525559 :Cole} - M - United Kingdom (Great Britain) England - 0 - - EDMD - 1 1 Johan den Dunnen
00216065 - PubMed: Bione, PubMed: Kress - M - Germany - - 0 - - EDMD - 1 1 Johan den Dunnen
00216066 - - - M - Portugal - - 0 - - EDMD - 1 1 Rosário dos Santos
00216067 - EMD-Wehnert, 1998 - - - Germany - - 0 - - EDMD - 1 1 Johan den Dunnen
00216068 - PubMed: Manilal, PubMed: Yates - M - France - - 0 - - EDMD - 1 1 Johan den Dunnen
00216069 - EMD-Toniolo, 1996 - - - Poland - - 0 - - EDMD - 1 1 Johan den Dunnen
00216070 - PubMed: Manilal - M - Spain - - 0 - - EDMD - 1 1 Johan den Dunnen
00216071 - EMD-Toniolo, 1998 - M - Poland - - 0 - - EDMD - 1 1 Johan den Dunnen
00216072 Pat3 PubMed: Mora, PubMed: Holt - M - Italy - - 0 - - EDMD - 1 1 Johan den Dunnen
00216073 Fam2/D/K2 PubMed: Klauck 1995, PubMed: Yates, PubMed: de Koning Gans, PubMed: Hausmanowa-Petrusewicz, PubMed: Ellis 1998 carrier mother M - Poland - - 0 - - EDMD - 1 1 Ieke Ginjaar
00216074 - - - M - Germany - >33y 0 - - EDMD contractures elbows and spine, severe cardiac conducting defect 1 1 Lab Müller-Reible
00216075 - EMD-Yates, 1998 - M - Scotland - - 0 - - EDMD - 1 1 Johan den Dunnen
00216076 - PubMed: Wulff - M - Germany - - 0 - - EDMD - 1 1 Johan den Dunnen
00216077 Fam3 PubMed: Nevo 2001 2 affected siblings - - Israel - - 0 - - EDMD - 1 2 Johan den Dunnen
00216078 - - - M - Germany - - 0 - - EDMD - 1 1 Lab Müller-Reible
00216079 - PubMed: Manilal - M - France - - 0 - - EDMD - 1 1 Johan den Dunnen
00216080 - UMD: Wehnert unpublished - - - Germany - - 0 - - EDMD - 1 1 Johan den Dunnen
00216081 - EMD-Toniolo - - - Poland - - 0 - - EDMD - 1 1 Johan den Dunnen
00216082 Fam4 PubMed: Funakoshi 1999 - M - Japan - >39y 0 - - EDMD cardiac problems, pacemaker; CPK elevated (HP:0003236) 582 1 1 Johan den Dunnen
00216083 - EMD-Kaplan, 1998 - - - Spain - - 0 - - EDMD - 1 1 Johan den Dunnen
00216084 - EMD-Kaplan, 1998 2 affected brothers M - France - - 0 - - EDMD - 1 2 Johan den Dunnen
00216085 - PubMed: Bione, OMIM:var0001 - M - Italy - - 0 - - EDMD - 1 1 Johan den Dunnen
00216086 - PubMed: Wulff, PubMed: Wulff 1997 - - - Germany - - 0 - - EDMD - 1 1 Johan den Dunnen
00216087 - PubMed: Menache 4 generation family - - United States white - 0 - - EDMD - 1 1 Johan den Dunnen
00216088 - PubMed: Bione, PubMed: Romeo, PubMed: Sabatelli 1998, OMIM:var0003 - M - Italy - - 0 - - EDMD - 1 1 Johan den Dunnen
00216089 - Wehnert (1999) Hum.Genet. 104:114 - - - Germany - - 0 - - EDMD - 1 1 Johan den Dunnen
00216090 - - - M - Germany - >45y 0 - - EDMD - 1 1 Lab Müller-Reible
00216091 - - - M - Germany - - 0 - - EDMD - 1 1 Lab Müller-Reible
00216092 Pat19/Y15 PubMed: Yates, PubMed: Ellis, OMIM:var0009 4 affected brothers and maternal cousin M - Ireland Northern Ireland - 0 - - EDMD - 1 5 Johan den Dunnen
00216093 - PubMed: Ellis, OMIM:var0008 - - - United States - - 0 - - EDMD - 1 1 Johan den Dunnen
00216094 - - - M - Germany - - 0 - - EDMD - 1 1 Lab Müller-Reible
00216095 - EMD-Toniolo, 1996 - M - South Africa - - 0 - - EDMD - 1 1 Johan den Dunnen
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