All individuals with variants in gene LMNA

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.

1183 entries on 12 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6	7	8	9	10	11	...		Next ›	Last »

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00016144	-	-	-	?	?	Netherlands	white	-	-	-	-	CMH	originally diagnosed with hypertrophic cardiomyopathy	1	1	Terry Vrijenhoek
00036059	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036060	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected partielle familiäre Lipodystrophie	1	1	Andreas Laner
00036061	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036062	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036063	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036064	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036065	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036066	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036067	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036068	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036069	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00054663	Pat16	PubMed: O'Grady 2016	2-generation family, 1 affected, unaffected non-carrier parents	M	-	Australia	-	>25y	-	-	-	MDC	gross motor delay, progression with wheelchair dependency in teenage years, mild facial weakness; CPK elevated (863-1710); histology dystrophic	1	1	Sandra Cooper
00054670	-	PubMed: O'Grady 2016	-	F	-	Australia	-	>18y	-	-	-	MDC	progression with loss of ambulation at 10y, contractures, scoliosis, restrictive lung disease; CPK mild elevation (448); histology dystrophic	1	1	Sandra Cooper
00054679	Pat92	PubMed: O'Grady 2016	-	F	-	Australia	-	>21y	-	-	-	MDC	progressive weakness with loss of ambulation age 10y, facial weakness, ptosis, contractures, tachyarrhythmia requiring pacemaker, restrictive lung disease ; CPK mild elevation (650-900); histology dystrophic	1	1	Sandra Cooper
00054687	Pat108	PubMed: O'Grady 2016	-	M	-	Australia	-	>06y	-	-	-	MDC	infantile hypotonia, gross motor delay, stood with support age 3y,macrocephaly, moderate obstructive sleep apnoea; CPK mild elevation (884-930); histology dystrophic	1	1	Sandra Cooper
00054690	Pat116	PubMed: O'Grady 2016	-	F	-	Australia	-	>04y	-	-	-	MDC	infantile hypotonia, gross motor delay, walked age 4y, contractures, prominent neck flexor weakness; CPK elevated (799-2470)	1	1	Sandra Cooper
00054692	Pat119	PubMed: O'Grady 2016	-	M	-	Australia	-	>03y	-	-	-	MDC	gross motor delay, walked age 3.5y, hypermobility, distal laxity; CPK elevated (926-1310)	1	1	Sandra Cooper
00059233	-	-	-	M	?	Azerbaijan	Azerbaijanis	>43y	-	yes	Cardiac conduction defect was treated by implantation of two-chambered PM	EDMD2;LGMD1B	cardiac conduction defect	1	2	Yulia Rogozhina
00064068	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064708	-	-	-	F	-	Denmark	-	24y	-	-	-	SUD	-	1	1	Sofie Lindgren Christiansen
00100281	-	PubMed: Carmosino 2016, Journal: Carmosino	5-generation family, 10 affecteds (4F, 6M), PatI2	F	no	Italy	-	54y	-	-	-	?	54y-sudden cardiac death	1	10	Johan den Dunnen
00100284	-	PubMed: Carmosino 2016, Journal: Carmosino	PatII1	M	no	Italy	-	65y	-	-	-	?	dilated cardiomyopathy, 65y-sudden cardiac death	1	1	Johan den Dunnen
00100285	-	PubMed: Carmosino 2016, Journal: Carmosino	PatII2	F	no	Italy	-	67y	-	-	-	?	67y-sudden cardiac death	1	1	Johan den Dunnen
00100286	-	PubMed: Carmosino 2016, Journal: Carmosino	PatIII3	M	no	Italy	-	-	-	-	59y-pacemaker	?	atrial fibrillation with slow ventricular response, mildly dilated right ventricle	1	1	Johan den Dunnen
00100287	-	PubMed: Carmosino 2016, Journal: Carmosino	PatIII4	F	no	Italy	-	-	-	-	58y-pacemaker	?	58y-atrioventricular block, 66y-atrial fibrillation, dilated cardiomyopathy	1	1	Johan den Dunnen
00100288	-	PubMed: Carmosino 2016, Journal: Carmosino	PatIII5	M	no	Italy	-	69y	-	-	57y-pacemaker	?	57y-atrioventricular block, 60y-atrial fibrillation, 69y-sudden cardiac death	1	1	Johan den Dunnen
00100289	-	PubMed: Carmosino 2016, Journal: Carmosino	PatIV1	M	no	Italy	-	-	-	-	39y-implantable cardioverter defibrillator, 48y-heart transplantation	?	atrioventricular block, 32y-non‐sustained ventricular tachycardia, 39y-sustained ventricular tachycardia, 44y-atrial flutter, arrhythmogenic cardiomyopathy	1	1	Johan den Dunnen
00100290	-	PubMed: Carmosino 2016, Journal: Carmosino	PatIV3	M	no	Italy	-	-	-	-	50y-pacemaker	?	50y-atrioventricular block, 52y-atrial fibrillation	1	1	Johan den Dunnen
00100291	-	PubMed: Carmosino 2016, Journal: Carmosino	PatIV4	M	no	Italy	-	-	-	-	43y-pacemaker, 48y-implantable cardioverter defibrillator	?	atrioventricular block, 43y-sick sinus syndrome, 48y-sustained ventricular tachycardia, dilated cardiomyopathy	1	1	Johan den Dunnen
00100292	-	PubMed: Carmosino 2016, Journal: Carmosino	PatV1	F	no	Italy	-	-	-	-	-	?	non‐sustained ventricular tachycardia	1	1	Johan den Dunnen
00100297	-	PubMed: Forleo 2015, Journal: Forleo 2015	4-generation family, 11 affecteds (5F, 6M)	F;M	no	Italy	-	-	-	-	-	?	arrhythmogenic cardiac laminopathy, see paper; ..., incl. ARVC, DCM, system conduction defects, ventricular arrhythmias, sudden cardiac death	1	11	Johan den Dunnen
00128371	48	PubMed: Sahlin 2019, Journal: Sahlin 2019	stillbirth cohort (290 cases from Sweden)	M	-	Sweden	-	-	-	-	-	?	-	1	1	Ellika Sahlin
00146465	19680556.c	PubMed: Halaschek-Wiener 2009	-	-	-	Canada	-	>85y	-	-	-	Healthy/Control	-	27	94	Johan den Dunnen
00146475	Pat1	PubMed: Denecke 2006	-	M	yes	Turkey	-	-	-	-	-	HGPS	-	1	1	Johan den Dunnen
00164804	25	van Tienen, submitted	-	M	-	Netherlands	-	>34y	-	-	-	CMD	-	1	1	Florence van Tienen
00164810	37	van Tienen, submitted	-	F	-	Netherlands	-	>42y	-	-	-	LVNC	-	1	1	Florence van Tienen
00164979	27	van Tienen, submitted	-	M	-	Netherlands	-	>48y	-	-	-	CMD	Left ventricle non-compaction, ASD	1	3	Florence van Tienen
00164980	36	van Tienen, submitted	-	M	-	Netherlands	-	>61y	-	-	-	CMH	-	1	1	Florence van Tienen
00164981	38	van Tienen, submitted	-	M	-	(Netherlands)	-	>44y	-	-	-	LQT	-	1	1	Florence van Tienen
00165003	42	van Tienen, submitted	-	M	-	Netherlands	-	>59y	-	-	-	LGMD	LGMD; cardiomyopathy	1	1	Florence van Tienen
00165005	19	van Tienen, submitted	-	M	?	Netherlands	-	>42y	-	-	-	CMD	-	1	1	Florence van Tienen
00165006	20	van Tienen, submitted	-	M	-	Netherlands	-	>59y	-	-	-	CMD	-	1	1	Florence van Tienen
00165007	32	van Tienen, submitted	-	M	?	Netherlands	-	>78y	-	-	-	CMD	-	1	1	Florence van Tienen
00165008	39	van Tienen, submitted	-	F	-	Netherlands	-	>51y	-	-	-	ARVC	-	1	1	Florence van Tienen
00165009	21	van Tienen, submitted	-	F	-	Netherlands	-	>46y	-	-	-	CMD	-	1	1	Florence van Tienen
00165010	26	van Tienen, submitted	-	M	no	Netherlands	-	>63y	-	-	-	CMD	-	1	1	Florence van Tienen
00165011	33	van Tienen, submitted	-	M	no	Netherlands	-	-	-	>50y	-	CMD	VF	1	1	Florence van Tienen
00165012	28	van Tienen, submitted	-	F	no	Netherlands	-	>30y	-	-	-	CMD	muscle weakness	1	1	Florence van Tienen
00165016	24	van Tienen, submitted	-	M	no	Netherlands	-	>53y	-	-	-	CMD	VF	1	1	Florence van Tienen
00165019	34	van Tienen, submitted	-	F	no	Netherlands	-	>44y	-	-	-	MDCL	Emery dreiffus muscular dystrophy	1	1	Florence van Tienen
00165023	45	van Tienen, submitted	-	M	no	Netherlands	-	>50y	-	-	-	ATFB	-	1	1	Florence van Tienen
00165029	22	van Tienen, submitted	-	M	no	Netherlands	-	>70y	-	-	-	CMD	-	1	1	Florence van Tienen
00165031	23	van Tienen, submitted	-	M	no	Netherlands	-	>46y	-	-	-	CMD	DCM, AF, mitralis insufficiency	1	1	Florence van Tienen
00165042	7	van Tienen, submitted	-	M	no	Netherlands	-	>03y	-	-	-	HGPS	-	2	1	Florence van Tienen
00165044	35	van Tienen, submitted	-	F	no	Netherlands	-	>48y	-	-	-	Healthy/Control	son has HGPS	1	1	Florence van Tienen
00165045	6	van Tienen, submitted	-	M	no	Netherlands	-	>36y	-	-	-	CMD	-	1	1	Florence van Tienen
00165046	31	van Tienen, submitted	-	M	-	Netherlands	-	>53y	-	-	-	CMD	-	2	1	Florence van Tienen
00165047	30	van Tienen, submitted	-	F	?	Netherlands	-	-	-	-	-	CMD	-	1	1	Florence van Tienen
00165048	40	van Tienen, submitted	-	M	?	Netherlands	-	>17y	-	-	-	LVNC	-	1	1	Florence van Tienen
00165050	2	van Tienen, submitted	-	?	?	-	-	-	-	-	-	-	-	1	1	Florence van Tienen
00165051	4	van Tienen, submitted	-	F	?	Netherlands	-	>51y	-	-	-	FPLD2	-	1	1	Florence van Tienen
00165052	5	van Tienen, submitted	-	?	-	-	-	-	-	-	-	FPLD2	-	1	1	Florence van Tienen
00165053	8	van Tienen, submitted	-	-	-	-	-	-	-	-	-	heart-hand syndrome, Slovenian type	-	1	1	Florence van Tienen
00165054	9	van Tienen, submitted	-	-	-	-	-	-	-	-	-	HGPS	-	1	1	Florence van Tienen
00174785	Pat19;PatA2	PubMed: Fichna 2018, PubMed: Macias 2021	-	M	-	Poland	-	-	-	-	-	LGMD	onset overt symptoms adolescence; CPK raised 7x; waddling gait from adolescence; myalgia and progression of lower limb weakness after upper respiratory tract infection in 8th decade; cardiac arrhythmias; diffuse muscle atrophy, hyperlordosis; waddling gait	1	1	Johan den Dunnen
00180911	58	-	-	M	?	Denmark	-	19y	-	-	-	SUD	sudden death with dilated cardiomyopathy (DCM) diagnosed at autopsy	1	1	Sofie Lindgren Christiansen
00181217	1	-	-	?	?	-	-	-	-	-	-	EDMD2;LGMD1B	-	1	1	Florence van Tienen
00181219	3	-	-	?	?	-	-	-	-	-	-	CMD	died shortly after birth	1	1	Florence van Tienen
00181220	-	-	-	M	?	-	-	>54y	-	-	-	Healthy/Control	-	1	1	Florence van Tienen
00181221	43	-	-	M	?	-	-	>33y	-	-	-	CMH	VF	1	1	Florence van Tienen
00208128	?	PubMed: Muntoni 2006	2-generation family, carrier brother deceased, asymptomatic father	M	no	United Kingdom (Great Britain)	-	22y	-	-	-	CMD	cardiac failure, breathlessness, normal CPK	1	2	Johan den Dunnen
00213409	18585512-PatR4	PubMed: Parks 2008	D3 (19412328), B10 (20215591); 2-generation family, 1 affected;	M	-	United States	white	-	-	-	-	CMD	-	1	1	Johan den Dunnen
00216138	-	PubMed: Manilal, PubMed: Muntoni, PubMed: Muntoni 2006	4 generation family (case 3)	M	-	United Kingdom (Great Britain)	-	-	-	-	-	EDMD	severe, atypical cardiac features; CPK elevated (HP:0003236) >10x; lost ability to walk (HP:0006957) 13y	1	1	Johan den Dunnen
00216183	-	PubMed: Brown	-	-	-	-	-	-	-	-	-	EDMD	-	1	1	Johan den Dunnen
00216184	-	PubMed: Brown	-	-	-	-	-	-	-	-	-	EDMD	-	1	1	Johan den Dunnen
00216185	-	PubMed: Felice, PubMed: Brown	-	-	-	-	-	-	-	-	-	EDMD	aunt died of cardiac arrhythmia	1	1	Johan den Dunnen
00216186	-	PubMed: Brown	-	M	-	-	-	-	-	-	-	EDMD	-	1	1	Johan den Dunnen
00216187	-	PubMed: Brown	-	-	-	-	-	-	-	-	-	EDMD	-	1	1	Johan den Dunnen
00216188	-	Drouin, ASHG2004, P640	-	F;M	-	France	-	>50y	-	-	-	?	complex incl. muscle weakness, atrial fibrilation, hypertriglyceridaemia and acro-osteolysis	1	3	Johan den Dunnen
00216189	-	PubMed: Vytopil	-	-	-	-	-	-	-	-	-	EDMD	predominant cardiac symptomatology and sudden death	1	1	Johan den Dunnen
00216190	-	PubMed: Bonne	-	-	-	-	-	-	-	-	-	EDMD	-	1	1	Johan den Dunnen
00216191	-	PubMed: Bonne	-	-	-	-	-	-	-	-	-	EDMD	-	1	1	Johan den Dunnen
00216192	-	PubMed: Bonne	-	-	-	-	-	-	-	-	-	EDMD	-	1	1	Johan den Dunnen
00216193	-	Lacene, Neuromuscul.Disord. 12: 722	-	-	-	-	-	-	-	-	-	LGMD	-	1	1	Johan den Dunnen
00216194	-	PubMed: Ki	-	-	-	Korea, South (Republic)	-	-	-	-	-	LGMD	-	1	1	Johan den Dunnen
00216195	-	PubMed: Novelli, PubMed: Taylor	-	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00216196	-	PubMed: Bonne	-	-	-	-	-	-	-	-	-	EDMD	-	1	1	Johan den Dunnen
00216197	-	PubMed: Taylor	-	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00216198	-	Lacene, Neuromuscul.Disord. 12: 722	-	-	-	-	-	-	-	-	-	EDMD	-	1	1	Johan den Dunnen
00216199	-	PubMed: Speckman, PubMed: Eriksson, PubMed: Taylor,	-	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00216200	-	PubMed: Bonne	-	-	-	-	-	-	-	-	-	EDMD	-	1	1	Johan den Dunnen
00216201	-	PubMed: Raffaele di Barletta	-	M	-	-	-	-	-	-	-	EDMD	-	1	1	Johan den Dunnen
00216202	-	PubMed: Raffaele di Barletta	-	M	-	-	-	-	-	-	-	EDMD	-	1	1	Johan den Dunnen
00216203	-	PubMed: Raffaele di Barletta	-	M	-	-	-	-	-	-	-	EDMD	-	1	1	Johan den Dunnen
00216204	-	PubMed: Raffaele di Barletta	-	M	-	-	-	-	-	-	-	EDMD	-	1	1	Johan den Dunnen
00216205	-	PubMed: Bonne	-	-	-	-	-	-	-	-	-	EDMD	-	1	1	Johan den Dunnen
00216206	-	PubMed: Bonne	-	-	-	-	-	-	-	-	-	EDMD	-	1	1	Johan den Dunnen
00216207	-	PubMed: Raffaele di Barletta	-	-	-	-	-	-	-	-	-	EDMD	-	1	1	Johan den Dunnen
00216208	-	PubMed: Shackleton, OMIM:var0011	-	-	-	-	-	-	-	-	-	FPLD	-	1	1	Johan den Dunnen

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6	7	8	9	10	11	...		Next ›	Last »

Global Variome shared LOVD

LMNA (lamin A/C)