Global Variome shared LOVD
MYPN (myopalladin)
LOVD v.3.0 Build 30b [
Current LOVD status
]
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Curators:
Global Variome, with Curator vacancy
and
Johan den Dunnen
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All individuals with variants in gene MYPN
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
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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.
124 entries on 2 pages. Showing entries 1 - 100.
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Legend
How to query
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Individual ID
ID_report
Reference
Remarks
Gender
Consanguinity
Country
Population
Age at death
VIP
Data_av
Treatment
Disease
Phenotype details
Variants
Panel size
Owner
00000209
-
PubMed: Sun 2011
,
Journal: Sun 2011
-
M
no
Netherlands
-
-
-
-
-
CHTE
central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)
1
1
Yu Sun
00016142
-
PubMed: Vrijenhoek 2015
,
Journal: Vrijenhoek 2015
-
?
?
Netherlands
white
-
-
-
-
CMH
originally diagnosed with hypertrophic cardiomyopathy
1
1
Terry Vrijenhoek
00043788
-
PubMed: Hertz 2015
,
Journal: Hertz 2015
-
F
?
Denmark
Denmark
00y01m
-
-
-
SIDS
-
1
1
Christin Hertz
00058469
-
PubMed: van Spaendonck-Zwarts 2014
2-generation family, 4 affecteds
F
-
South Africa
-
-
-
-
-
PPCM
2 cases mild DCM, 2 cases peripartum cardiomyopathy
1
4
Johan den Dunnen
00143770
-
-
-
M
-
(Germany)
-
-
-
-
-
?
HP:0001644 (Dilated cardiomyopathy)
1
1
IMGAG
00163884
-
PubMed: Verhagen 2018
,
Journal: Verhagen 2018
2-generation family, 1 affected (M), 1 unaffected (M)
M
-
Netherlands
white
-
-
yes
-
CMD
-
1
1
Judith Verhagen
00183403
Patient XV
PubMed: Giugliano 2018
-
F
?
-
-
-
-
-
-
MYOP
onset juvenile, proximal weakness, weakness in posterior muscles and quadriceps and distal in lower limbs, elevated CPK (1-10x), EMG myopathic; biopsy aspecific, internal nuclei; slight cardiac hypertrophy
1
1
Teresa Giugliano
00212549
20801532-PatAA1
PubMed: Bagnall 2010
2-generation family, unaffected carrier mother
M
-
Australia
-
>21y
-
-
-
CMH
severe
1
2
Johan den Dunnen
00212550
22286171-PatMC31379
PubMed: Purevjav 2012
sibling of JC31380
F
-
-
white
>35y
-
-
-
CMD
treatment: lesinopril and metoprolol
2
1
Julia Lopez
00212551
22286171-PatJC31380
PubMed: Purevjav 2012
sibling of JC31379
F
-
-
white
>38y
-
-
-
CMD
treatment: metoprolol
1
1
Julia Lopez
00216862
18006477-FamAII1
PubMed: Duboscq-Bidot 2008
3-generation family, 2 affecteds, 2 unaffected carriers
F
-
France
European
>65y
-
-
-
CMD
32y-nodal tachycardia; 62y-CHF; CPK not elevated (-HP:0003236)
1
1
Johan den Dunnen
00216863
18006477-FamAII4
PubMed: Duboscq-Bidot 2008
3-generation family, 2 affecteds, 2 unaffected carriers
M
-
France
European
47y
-
-
-
CMD
non-cardiac death (crash)
1
1
Johan den Dunnen
00216864
18006477-FamAIII1
PubMed: Duboscq-Bidot 2008
3-generation family, 2 affecteds, 2 unaffected carriers
F
-
France
European
>38y
-
-
-
?
healthy
1
1
Johan den Dunnen
00216865
18006477-FamAIII2
PubMed: Duboscq-Bidot 2008
3-generation family, 2 affecteds, 2 unaffected carriers
M
-
France
European
20y
-
-
-
CMD
DCM, mitral valve prolapse with important mitral regurgitation; 20y-CHF while waiting for heart transplant
1
1
Johan den Dunnen
00216866
18006477-FamAIII4
PubMed: Duboscq-Bidot 2008
3-generation family, 2 affecteds, 2 unaffected carriers
M
-
France
European
>37y
-
-
-
?
-
1
1
Johan den Dunnen
00216867
18006477-FamBII2
PubMed: Duboscq-Bidot 2008
4-generation family, 5 affecteds
M
-
France
European
55y
-
-
-
CMD
52y-alcoholism, CHF, atrial fibrillation; 55y-ischaemic CVA, CHF, cardiac death
1
1
Johan den Dunnen
00216868
18006477-FamBII3
PubMed: Duboscq-Bidot 2008
4-generation family, 5 affecteds
M
-
France
European
>53y
-
-
-
CMD
alcoholism, DCM diagnosed during genetic inquest
1
1
Johan den Dunnen
00216869
18006477-FamBIII1
PubMed: Duboscq-Bidot 2008
4-generation family, 5 affecteds
M
-
France
European
29y
-
-
-
CMD
initial diagnosis myocarditis with CHF; 29y-death refractory CHF
1
1
Johan den Dunnen
00216870
18006477-FamBIV1
PubMed: Duboscq-Bidot 2008
4-generation family, 5 affecteds
F
-
France
European
>18y
-
-
-
CMD
interatrial defect; CPK not elevated (-HP:0003236)
1
1
Johan den Dunnen
00216871
18006477-FamCII1
PubMed: Duboscq-Bidot 2008
2-generation family, 1 affected
M
-
France
European
>38y
-
-
-
CMD
CPK not elevated (-HP:0003236)
1
1
Johan den Dunnen
00216872
18006477-FamDII1
PubMed: Duboscq-Bidot 2008
2-generation family, 1 affected
M
-
France
European
>58y
-
-
-
CMD
mild alcoholism; CPK not elevated (-HP:0003236)
1
1
Johan den Dunnen
00216873
18006477-c
PubMed: Duboscq-Bidot 2008
-
-
-
France
-
-
-
-
-
?
-
1
1
Johan den Dunnen
00216874
18006477-c
PubMed: Duboscq-Bidot 2008
-
-
-
France
-
-
-
-
-
?
-
1
1
Johan den Dunnen
00216875
18006477-c
PubMed: Duboscq-Bidot 2008
-
-
-
France
-
-
-
-
-
?
-
1
1
Johan den Dunnen
00216876
18006477-c
PubMed: Duboscq-Bidot 2008
-
-
-
France
-
-
-
-
-
?
-
1
1
Johan den Dunnen
00216877
18006477-c
PubMed: Duboscq-Bidot 2008
-
-
-
France
-
-
-
-
-
?
-
1
1
Johan den Dunnen
00216878
18006477-c
PubMed: Duboscq-Bidot 2008
-
-
-
France
-
-
-
-
-
?
-
1
1
Johan den Dunnen
00216879
18006477-c
PubMed: Duboscq-Bidot 2008
-
-
-
France
-
-
-
-
-
?
-
1
1
Johan den Dunnen
00216880
18006477-c
PubMed: Duboscq-Bidot 2008
-
-
-
France
-
-
-
-
-
?
-
1
1
Johan den Dunnen
00216881
18006477-c
PubMed: Duboscq-Bidot 2008
-
-
-
France
-
-
-
-
-
?
-
1
1
Johan den Dunnen
00216882
18006477-c
PubMed: Duboscq-Bidot 2008
-
-
-
France
-
-
-
-
-
?
-
1
1
Johan den Dunnen
00216883
18006477-c
PubMed: Duboscq-Bidot 2008
-
-
-
France
-
-
-
-
-
?
-
1
1
Johan den Dunnen
00216884
18006477-c
PubMed: Duboscq-Bidot 2008
-
-
-
France
-
-
-
-
-
?
-
1
1
Johan den Dunnen
00216885
18006477-c
PubMed: Duboscq-Bidot 2008
-
-
-
France
-
-
-
-
-
?
-
1
1
Johan den Dunnen
00216886
18006477-c
PubMed: Duboscq-Bidot 2008
-
-
-
France
-
-
-
-
-
?
-
1
1
Johan den Dunnen
00216887
18006477-c
PubMed: Duboscq-Bidot 2008
-
-
-
France
-
-
-
-
-
?
-
1
1
Johan den Dunnen
00216888
18006477-c
PubMed: Duboscq-Bidot 2008
-
-
-
France
-
-
-
-
-
?
-
1
1
Johan den Dunnen
00216889
18006477-c
PubMed: Duboscq-Bidot 2008
-
-
-
France
-
-
-
-
-
?
-
1
1
Johan den Dunnen
00216890
18006477-c
PubMed: Duboscq-Bidot 2008
-
-
-
France
-
-
-
-
-
?
-
1
1
Johan den Dunnen
00216891
22286171-PatVIII
PubMed: Purevjav 2012
-
M
-
(United States)
white
>59y
-
-
-
CMH
pacemarker
1
1
Julia Lopez
00216892
22286171-PatII
PubMed: Purevjav 2012
-
F
-
Japan
Asian
>53y
-
-
-
CMH
-
1
1
Julia Lopez
00216893
22286171-PatIII
PubMed: Purevjav 2012
-
F
-
Japan
Asian
>44y
-
-
-
CMH
-
2
1
Julia Lopez
00216894
22286171-PatI
PubMed: Purevjav 2012
-
M
-
Japan
Asian
>50y
-
-
-
CMH
myoectomy
1
1
Julia Lopez
00216895
22286171-PatCM1023m
PubMed: Purevjav 2012
2-generation family, mother/2 children
M
-
Japan
Asian
>22y
-
-
-
?
aortic regurgitation, no RCM
1
1
Julia Lopez
00216896
22286171-PatCM1023
PubMed: Purevjav 2012
2 siblings,
M
-
Japan
Asian
>22y
-
-
-
RCM
mitral regurgitation (MR), tricuspid regurgitation (TR), atrial fibrillation (AF), 11 years, heart transplant
1
1
Julia Lopez
00216897
22286171-PatCM1024
PubMed: Purevjav 2012
2 siblings
F
-
-
-
>19y
-
-
-
RCM
mitral regurgitation (MR), 9 years, heart transplant
1
1
Julia Lopez
00216898
22286171-PatIV
PubMed: Purevjav 2012
-
F
-
-
white
>54y
-
-
-
CMH
-
1
1
Julia Lopez
00216899
22286171-PatV
PubMed: Purevjav 2012
-
M
-
-
white
>59y
-
-
-
CMH
-
1
1
Julia Lopez
00216900
22286171-PatVI
PubMed: Purevjav 2012
-
M
-
United States
American-Indian;Alaskan
>63y
-
-
-
CMH
myoectomy
1
1
Julia Lopez
00216901
22286171-PatVII
PubMed: Purevjav 2012
-
F
-
-
white
>64y
-
-
-
CMH
-
1
1
Julia Lopez
00216902
22286171-PatH558307
PubMed: Purevjav 2012
-
M
-
-
white
>58y
-
-
-
CMD
atrial fibrillation (AF), Holter-salvo VT 7 bts
1
1
Julia Lopez
00216903
22286171-PatKA22974
PubMed: Purevjav 2012
-
M
-
-
white
>10y
-
-
-
CMD
-
1
1
Julia Lopez
00216904
22286171-Pat16017
PubMed: Purevjav 2012
-
F
-
-
white
>27y
-
-
-
CMD
mother had heart transplant
1
1
Julia Lopez
00216905
22286171-Pat08V3294
PubMed: Purevjav 2012
-
F
-
-
white
>17y
-
-
-
CMD
-
1
1
Julia Lopez
00216906
22286171-cons
PubMed: Purevjav 2012
-
-
-
-
-
-
-
-
-
?
-
1
1
Johan den Dunnen
00216907
22286171-cons
PubMed: Purevjav 2012
-
-
-
-
-
-
-
-
-
?
-
1
1
Johan den Dunnen
00216908
22286171-cons
PubMed: Purevjav 2012
-
-
-
-
-
-
-
-
-
?
-
1
12
Johan den Dunnen
00216909
22286171-cons
PubMed: Purevjav 2012
-
-
-
-
-
-
-
-
-
?
-
1
3
Johan den Dunnen
00216910
22286171-cons
PubMed: Purevjav 2012
-
-
-
-
-
-
-
-
-
?
-
1
3
Johan den Dunnen
00216911
22286171-cons
PubMed: Purevjav 2012
-
-
-
-
-
-
-
-
-
?
-
1
3
Johan den Dunnen
00216912
22286171-cons
PubMed: Purevjav 2012
-
-
-
-
-
-
-
-
-
?
-
1
35
Johan den Dunnen
00216913
22286171-cons
PubMed: Purevjav 2012
-
-
-
-
-
-
-
-
-
?
-
1
7
Johan den Dunnen
00216914
22286171-cons
PubMed: Purevjav 2012
-
-
-
-
-
-
-
-
-
?
-
1
6
Johan den Dunnen
00216915
22286171-cons
PubMed: Purevjav 2012
-
-
-
-
-
-
-
-
-
?
-
1
2
Johan den Dunnen
00216916
22286171-cons
PubMed: Purevjav 2012
-
-
-
-
-
-
-
-
-
?
-
1
2
Johan den Dunnen
00216917
22286171-cons
PubMed: Purevjav 2012
-
-
-
-
-
-
-
-
-
?
-
1
3
Johan den Dunnen
00216918
22286171-cons
PubMed: Purevjav 2012
-
-
-
-
-
-
-
-
-
?
-
1
3
Johan den Dunnen
00216919
22286171-cons
PubMed: Purevjav 2012
-
-
-
-
-
-
-
-
-
?
-
1
6
Johan den Dunnen
00216920
22286171-cons
PubMed: Purevjav 2012
-
-
-
-
-
-
-
-
-
?
-
1
3
Johan den Dunnen
00216921
22286171-cons
PubMed: Purevjav 2012
-
-
-
-
-
-
-
-
-
?
-
1
3
Johan den Dunnen
00216922
22286171-pats
PubMed: Purevjav 2012
-
-
-
-
-
-
-
-
-
CM
-
1
1
Johan den Dunnen
00216923
22286171-pats
PubMed: Purevjav 2012
-
-
-
-
-
-
-
-
-
CM
-
1
1
Johan den Dunnen
00216924
22286171-pats
PubMed: Purevjav 2012
-
-
-
-
-
-
-
-
-
CM
-
1
10
Johan den Dunnen
00216925
22286171-pats
PubMed: Purevjav 2012
-
-
-
-
-
-
-
-
-
CM
-
1
5
Johan den Dunnen
00216926
22286171-pats
PubMed: Purevjav 2012
-
-
-
-
-
-
-
-
-
CM
-
1
1
Johan den Dunnen
00216927
22286171-pats
PubMed: Purevjav 2012
-
-
-
-
-
-
-
-
-
CM
-
1
1
Johan den Dunnen
00216928
22286171-pats
PubMed: Purevjav 2012
-
-
-
-
-
-
-
-
-
CM
-
1
3
Johan den Dunnen
00216929
22286171-pats
PubMed: Purevjav 2012
-
-
-
-
-
-
-
-
-
CM
-
1
3
Johan den Dunnen
00216930
22286171-pats
PubMed: Purevjav 2012
-
-
-
-
-
-
-
-
-
CM
-
1
17
Johan den Dunnen
00216931
22286171-pats
PubMed: Purevjav 2012
-
-
-
-
-
-
-
-
-
CM
-
1
18
Johan den Dunnen
00216932
22286171-pats
PubMed: Purevjav 2012
-
-
-
-
-
-
-
-
-
CM
-
1
15
Johan den Dunnen
00216933
22286171-pats
PubMed: Purevjav 2012
-
-
-
-
-
-
-
-
-
CM
-
1
886
Johan den Dunnen
00216934
22286171-pats
PubMed: Purevjav 2012
-
-
-
-
-
-
-
-
-
CM
-
1
7
Johan den Dunnen
00216935
22286171-pats
PubMed: Purevjav 2012
-
-
-
-
-
-
-
-
-
CM
-
1
3
Johan den Dunnen
00216936
22286171-pats
PubMed: Purevjav 2012
-
-
-
-
-
-
-
-
-
CM
-
1
4
Johan den Dunnen
00216937
22286171-pats
PubMed: Purevjav 2012
-
-
-
-
-
-
-
-
-
CM
-
1
1
Johan den Dunnen
00216938
22286171-pats
PubMed: Purevjav 2012
-
-
-
-
-
-
-
-
-
CM
-
1
2
Johan den Dunnen
00216939
22286171-pats
PubMed: Purevjav 2012
-
-
-
-
-
-
-
-
-
CM
-
1
1
Johan den Dunnen
00216940
22286171-pats
PubMed: Purevjav 2012
-
-
-
-
-
-
-
-
-
CM
-
1
4
Johan den Dunnen
00216941
22286171-pats
PubMed: Purevjav 2012
-
-
-
-
-
-
-
-
-
CM
-
1
2
Johan den Dunnen
00216942
22286171-pats
PubMed: Purevjav 2012
-
-
-
-
-
-
-
-
-
CM
-
1
1
Johan den Dunnen
00216943
22892539-Pat1
PubMed: Meyer 2013
2-generation family, 1 affected, mother died of heart failure
M
-
-
white
>44y
-
-
-
CMD
LVEF 0.24, LVEDD 68mm
1
1
Johan den Dunnen
00216944
22892539-Pat2
PubMed: Meyer 2013
3-generation family, 1 affected, maternal uncle died of heart failure
M
-
-
white
>33y
-
-
-
CMD
severely compromised left-ventricular systolic function with reduced LVEF (0.15), increased LVEDD (82mm)
1
1
Johan den Dunnen
00216945
22892539-Pats
PubMed: Meyer 2013
-
-
-
-
-
-
-
-
-
CMD
-
1
9
Johan den Dunnen
00216946
22892539-Pats
PubMed: Meyer 2013
-
-
-
-
-
-
-
-
-
CMD
-
1
44
Johan den Dunnen
00216947
22892539-Pats
PubMed: Meyer 2013
-
-
-
-
-
-
-
-
-
CMD
-
1
6
Johan den Dunnen
00216948
22892539-Pats
PubMed: Meyer 2013
-
-
-
-
-
-
-
-
-
CMD
-
1
2
Johan den Dunnen
00216949
22892539-Pats
PubMed: Meyer 2013
-
-
-
-
-
-
-
-
-
CMD
-
1
1
Johan den Dunnen
00216950
22892539-Pats
PubMed: Meyer 2013
-
-
-
-
-
-
-
-
-
CMD
-
1
5
Johan den Dunnen
00216951
22892539-Pats
PubMed: Meyer 2013
-
-
-
-
-
-
-
-
-
CMD
-
1
2
Johan den Dunnen
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