Disease #05350 (EDMD (dystrophy, muscular, Emery-Dreifuss (EDMD)))

Official abbreviation	EDMD
Name	dystrophy, muscular, Emery-Dreifuss (EDMD)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	318
Phenotype entries for this disease	316
Associated with 0 genes	-
Associated tissues	-
Disease features	-
Remarks	-
Date created	2017-11-24 16:21:34 +01:00 (CET)
Date last edited	N/A

Individuals

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)

Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

How to query this table

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

318 entries on 4 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4		Next ›	Last »

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00142351	-	-	-	M	-	Albania	-	-	-	-	-	EDMD	-	DMD	DMD	1	1	Christofer Konialis
00205453	-	PubMed: Gueneau 2009	6-generation family, 9 affecteds	M	-	-	Europe	>41y	-	-	-	EDMD	muscle weakness/wasting UL (scapulo-humeral) / LL (pelvic, distal); rigid spine, stiff neck, contractures elbow/ankle/knees/hips, scoliosis; elevated serum creatine phosphokinase (HP:0003236) 6x	FHL1	FHL1	1	9	Johan den Dunnen
00205454	-	PubMed: Gueneau 2009	4-generation family, 1 affected	M	-	-	Europe	>30y	-	-	-	EDMD	muscle weakness/wasting UL (scapular) / LL (pelvic); rigid spine, stiff neck, contractures elbow/ankle/knees, muscle hypertrophy, dysphonia due to vocal cord palsy, swallowing difficulties; elevated serum creatine phosphokinase (HP:0003236) 2.3-3.7x	FHL1	FHL1	1	1	Johan den Dunnen
00205455	-	PubMed: Gueneau 2009	3-generation family, 2 affecteds	M	-	-	Europe	>35y	-	-	-	EDMD	muscle weakness/wasting UL (scapular, scapula alata) / LL (pelvic, peroneal); rigid spine, stiff neck, contractures elbow/ankle, scoliosis (arthrodesisat 19y); elevated serum creatine phosphokinase (HP:0003236) 4.5x	FHL1	FHL1	1	2	Johan den Dunnen
00205456	-	PubMed: Gueneau 2009	4-generation family, 3 affecteds	M	-	Japan	-	>23y	-	-	-	EDMD	muscle weakness/wasting UL (scapular, humeral) / LL (pelvic, peroneal), rigid spine, stiff neck; contractures ankle/hips, ptosis; ; elevated serum creatine phosphokinase (HP:0003236) 2x	FHL1	FHL1	1	3	Johan den Dunnen
00205457	-	PubMed: Gueneau 2009	4-generation consanguineous family, 5 affecteds	M	-	Saudi Arabia	-	>18y	-	-	-	EDMD	muscle weakness/wasting UL (scapular) / LL (peroneal); rigid spine, stiff neck, contractures elbow/ankle/wrists/knees, scoliosis, dysphonia due to vocal cord palsy; no elevated serum creatine phosphokinase (-HP:0003236)	FHL1	FHL1	1	5	Johan den Dunnen
00205458	-	PubMed: Gueneau 2009	-	M	-	-	Europe	>26y	-	-	-	EDMD	muscle weakness/wasting UL (humeral) / LL (peroneal); contractures elbow/ankle, dysphonia due to vocal cord palsy; elevated serum creatine phosphokinase (HP:0003236) 2.3x	FHL1	FHL1	1	1	Johan den Dunnen
00205459	-	PubMed: Gueneau 2009	4-generation family, 1 affected	M	-	-	Europe	>54y	-	-	-	EDMD	muscle weakness/wasting LL (pelvic); stiff neck, contractures ankle/shoulders, muscle hypertrophy (paravertebral and shoulders); elevated serum creatine phosphokinase (HP:0003236) 2.5x	FHL1	FHL1	1	1	Johan den Dunnen
00205483	-	PubMed: Tiffin 2013	3-generation family, 3 affected males, 2 unaffected heterozygous carrier females	M	no	New Zealand	-	-	-	-	-	EDMD	proportionate short stature, facial dysmorphism, pulmonary valvular stenosis, thoracic scoliosis, brachydactyly, pectus deformities, genital abnormalities	FHL1	FHL1	1	3	Johan den Dunnen
00205485	-	PubMed: Pen 2013	4-generation family, 4 affected males (3 generations), 3 unaffected heterozygous carrier females	M	no	Denmark	-	-	-	-	-	EDMD	facila dysmorphy, pulmonary artery hypoplasia	FHL1	FHL1	1	4	Johan den Dunnen
00215997	-	PubMed: Manilal, PubMed: Muntoni	4 generation family (case 1)	M	-	United Kingdom (Great Britain)	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00215999	09384614-PatAB	PubMed: Small 1998	-	M	-	United States	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216000	-	PubMed: Fujimoto	-	M	-	Japan	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216001	-	PubMed: Small	-	-	-	United States	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216002	-	EMD-Wehnert, 1998	3 brothers, full gene deletion	-	-	Germany	-	-	-	-	-	EDMD	-	EMD	EMD	1	3	Johan den Dunnen
00216003	-	EMD-Muller, 1996	gene deletion	-	-	Germany	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216004	Pat6	PubMed: Funakoshi 1999	-	M	-	Japan	-	>8y	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216007	Fam1	PubMed: Nevo 2001	3 affected siblings	-	-	Israel	-	-	-	-	-	EDMD	-	EMD	EMD	1	3	Johan den Dunnen
00216008	Pat6/Fam1	PubMed: Yates, PubMed: Yates, PubMed: de Koning Gans	-	M	-	Scotland	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Ieke Ginjaar
00216009	-	Tverskaya ESHG2006 P0740	-	M	-	Russia	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Svetlana Tverskaya
00216010	-	PubMed: Bione	2 brothers	M	-	Germany	-	-	-	-	-	EDMD	-	EMD	EMD	1	2	Johan den Dunnen
00216011	-	EMD-Kaplan, 1998	-	-	-	United Kingdom (Great Britain)	England	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216012	-	PubMed: Buckley 1999	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216013	-	PubMed: Klauck 1995, PubMed: Yates, PubMed: Ellis 1998, PubMed: Johnston, PubMed: Yates, OMIM:var0006	-	M	-	Scotland	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216014	FamL1/3193	PubMed: Manilal, PubMed: Manilal	-	M	-	United Kingdom (Great Britain)	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216015	-	PubMed: Nevo 1999	3 affecteds	M	-	United States	-	>18y	-	-	-	EDMD	cardiac problems, pacemaker; CPK elevated (HP:0003236) 830	EMD	EMD	1	3	Johan den Dunnen
00216016	-	PubMed: Bione, PubMed: Romeo, OMIM:var0004	-	M	-	Italy	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216019	-	PubMed: Manilal	-	M	-	France	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216020	Pat9/FamP	PubMed: Yates, PubMed: Yates, PubMed: Hausmanowa-Petrusewicz, PubMed: Markiewicz 2002	-	-	-	Poland	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216021	-	EMD-Toniolo, 1996	-	-	-	Italy	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216022	Pat1/2	PubMed: Markiewicz 2002, Yates 1996, PubMed: Fidzianska 2003, PubMed: Fidzianska	3 brothers	-	-	Poland	-	-	-	-	-	EDMD	-	EMD	EMD	1	2	Johan den Dunnen
00216023	-	EMD-D.Toniolo, 1998	-	-	-	Italy	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216024	-	PubMed: Ellis, EMD-Muller, 1996	-	-	-	Germany	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216025	-	UMD: Wehnert unpublished	-	-	-	Germany	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216026	-	EMD-Kaplan, 1998	-	M	-	France	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216027	Pat10	PubMed: Yates	-	M	-	United Kingdom (Great Britain)	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216028	-	EMD-Toniolo, 1996	-	-	-	Germany	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216029	Fam2	PubMed: Nevo 2001	3 affected siblings family	-	-	Israel	-	-	-	-	-	EDMD	-	EMD	EMD	1	3	Johan den Dunnen
00216030	Fam1	PubMed: Canki-Klain 2000	6 affecteds, 4 generation family	-	-	Yugoslavia	-	>23y	-	-	-	EDMD	cardiac problems	EMD	EMD	1	6	Johan den Dunnen
00216031	Pat11	PubMed: Yates	-	M	-	United Kingdom (Great Britain);United States	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216032	Pat12/FamA	PubMed: Yates, PubMed: Deymeer, PubMed: Yates	-	M	-	Turkey	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216033	Pat13	PubMed: Yates	-	M	-	Poland	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216034	Pat19a	EMD-Toniolo, 1996	-	-	-	Poland	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216035	-	EMD-Toniolo, 1998	-	M	-	Italy	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216036	-	PubMed: Bione, OMIM:var0002	-	M	-	Italy	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216037	Pat3	PubMed: Markiewicz 2002	-	M	-	Poland	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216039	-	PubMed: Bione	2 brothers	M	-	Germany	-	-	-	-	-	EDMD	-	EMD	EMD	1	2	Johan den Dunnen
00216041	-	PubMed: Wulff	-	M	-	Germany	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216042	-	PubMed: Manilal, PubMed: Hoeltzenbein, OMIM:var0010	2 affected brothers	M	-	Germany	-	-	-	-	-	EDMD	-	EMD	EMD	1	2	Johan den Dunnen
00216043	-	PubMed: Hoeltzenbein	2 affected brothers	M	-	Germany	-	-	-	-	-	EDMD	-	EMD	EMD	1	2	Johan den Dunnen
00216044	-	PubMed: Nevo 1999	3 affecteds	M	-	United States	-	>12y	-	-	-	EDMD	CPK elevated (HP:0003236) 1300	EMD	EMD	1	3	Johan den Dunnen
00216045	-	EMD-Yates, 1998	2 brothers	-	-	Ireland	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216046	-	EMD-Toniolo, 1998	-	-	-	Poland	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216047	-	PubMed: Manilal	symptomatic carrier mother (skewed Xi)	-	-	-	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216048	-	EMD-Kress, 1998	-	M	-	Germany	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216049	-	Wehnert (2000) Hum.Genet. 105:151	-	-	-	-	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216050	-	PubMed: Bione, PubMed: Yates, PubMed: Waters, PubMed: Hopkins, PubMed: Consalez	Virginia	M	-	United States	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216051	-	PubMed: Nevo 1999	2 affected brothers	M	-	United States	-	>40y	-	-	-	EDMD	caridiac problems, pace maker; CPK elevated (HP:0003236) 2727	EMD	EMD	1	2	Johan den Dunnen
00216052	-	PubMed: Bione, OMIM:var0005	-	M	-	Turkey	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216053	Pat15	PubMed: Yates	-	M	-	United Kingdom (Great Britain)	England	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216054	Pat16/Y1	PubMed: Yates, PubMed: Ellis 1998, {PMID13724309 :Dreifuss}, PubMed: Emery, PubMed: Emery	-	M	-	United States	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216055	Pat2	PubMed: Yates	-	M	-	Wales	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216056	Pat19a	PubMed: Mora	-	M	-	France	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216057	-	PubMed: Manilal, PubMed: Yates, PubMed: Paquis	-	M	-	France	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216058	Pat5	PubMed: Funakoshi 1999	-	M	-	Japan	-	>23y	-	-	-	EDMD	cardiac problems, pacemaker; CPK elevated (HP:0003236) 690	EMD	EMD	1	1	Johan den Dunnen
00216059	-	PubMed: Wulff	-	-	-	Germany	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216060	-	PubMed: Wulff, PubMed: Wulff 1997	-	M	-	Germany	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216061	-	PubMed: Manilal	-	M	-	Germany	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216062	-	PubMed: Manilal, PubMed: Muntoni	4 generation family (case 2)	M	-	United Kingdom (Great Britain)	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216063	Pat1/Pat8	PubMed: Kubo, PubMed: Funakoshi 1999	mother carrier	M	-	Japan	-	>10y	-	-	-	EDMD	RSS; CPK elevated (HP:0003236) 849	EMD	EMD	1	1	Johan den Dunnen
00216064	-	PubMed: Manilal, PubMed: Yates, PubMed: Hodgson, {PMID1525559 :Cole}	-	M	-	United Kingdom (Great Britain)	England	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216065	-	PubMed: Bione, PubMed: Kress	-	M	-	Germany	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216066	-	-	-	M	-	Portugal	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Rosário dos Santos
00216067	-	EMD-Wehnert, 1998	-	-	-	Germany	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216068	-	PubMed: Manilal, PubMed: Yates	-	M	-	France	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216069	-	EMD-Toniolo, 1996	-	-	-	Poland	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216070	-	PubMed: Manilal	-	M	-	Spain	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216071	-	EMD-Toniolo, 1998	-	M	-	Poland	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216072	Pat3	PubMed: Mora, PubMed: Holt	-	M	-	Italy	-	-	-	-	-	EDMD	-	EMD	EMD	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	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Ieke Ginjaar
00216074	-	-	-	M	-	Germany	-	>33y	-	-	-	EDMD	contractures elbows and spine, severe cardiac conducting defect	EMD	EMD	1	1	Lab Müller-Reible
00216075	-	EMD-Yates, 1998	-	M	-	Scotland	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216076	-	PubMed: Wulff	-	M	-	Germany	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216077	Fam3	PubMed: Nevo 2001	2 affected siblings	-	-	Israel	-	-	-	-	-	EDMD	-	EMD	EMD	1	2	Johan den Dunnen
00216078	-	-	-	M	-	Germany	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Lab Müller-Reible
00216079	-	PubMed: Manilal	-	M	-	France	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216080	-	UMD: Wehnert unpublished	-	-	-	Germany	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216081	-	EMD-Toniolo	-	-	-	Poland	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216082	Fam4	PubMed: Funakoshi 1999	-	M	-	Japan	-	>39y	-	-	-	EDMD	cardiac problems, pacemaker; CPK elevated (HP:0003236) 582	EMD	EMD	1	1	Johan den Dunnen
00216083	-	EMD-Kaplan, 1998	-	-	-	Spain	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216084	-	EMD-Kaplan, 1998	2 affected brothers	M	-	France	-	-	-	-	-	EDMD	-	EMD	EMD	1	2	Johan den Dunnen
00216085	-	PubMed: Bione, OMIM:var0001	-	M	-	Italy	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216086	-	PubMed: Wulff, PubMed: Wulff 1997	-	-	-	Germany	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216087	-	PubMed: Menache	4 generation family	-	-	United States	white	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216088	-	PubMed: Bione, PubMed: Romeo, PubMed: Sabatelli 1998, OMIM:var0003	-	M	-	Italy	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216089	-	Wehnert (1999) Hum.Genet. 104:114	-	-	-	Germany	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen
00216090	-	-	-	M	-	Germany	-	>45y	-	-	-	EDMD	-	EMD	EMD	1	1	Lab Müller-Reible
00216091	-	-	-	M	-	Germany	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Lab Müller-Reible
00216092	Pat19/Y15	PubMed: Yates, PubMed: Ellis, OMIM:var0009	4 affected brothers and maternal cousin	M	-	Ireland	Northern Ireland	-	-	-	-	EDMD	-	EMD	EMD	1	5	Johan den Dunnen
00216093	-	PubMed: Ellis, OMIM:var0008	-	-	-	United States	-	-	-	-	-	EDMD	-	EMD	EMD	1	1	Johan den Dunnen

	Legend	How to query	« First	‹ Prev		1	2	3	4		Next ›	Last »

Global Variome shared LOVD