Global Variome shared LOVD
LDB3 (LIM domain binding 3)
LOVD v.3.0 Build 27 [
Current LOVD status
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Curator:
Johan den Dunnen
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All individuals with variants in gene LDB3
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.
76 entries on 1 page. Showing entries 1 - 76.
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Legend
How to query
Individual ID
ID_report
Reference
Remarks
Gender
Consanguinity
Country
Population
Age at death
VIP
Data_av
Treatment
Disease
Phenotype details
Variants
Panel size
Owner
00016142
-
PubMed: Vrijenhoek 2015
,
Journal: Vrijenhoek 2015
-
?
?
Netherlands
white
-
0
-
-
CMH
originally diagnosed with hypertrophic cardiomyopathy
1
1
Terry Vrijenhoek
00043789
-
PubMed: Hertz 2015
,
Journal: Hertz 2015
-
F
?
Denmark
African
00y00m
0
-
-
SIDS
Not fulfilling criteria of SIDS due to missing information
1
1
Christin Hertz
00046334
-
-
-
?
?
Israel
Bedouin
-
0
-
-
Healthy/Control
-
1
105
Ruti Parvari
00064076
-
PubMed: Lopes 2013
,
Journal: Lopes 2013
analysis of 223 cases
-
-
United Kingdom (Great Britain)
-
-
0
-
-
CMH
-
1
1
Johan den Dunnen
00064094
-
PubMed: Lopes 2013
,
Journal: Lopes 2013
analysis of 223 cases
-
-
United Kingdom (Great Britain)
-
-
0
-
-
CMH
-
1
1
Johan den Dunnen
00064099
-
PubMed: Lopes 2013
,
Journal: Lopes 2013
analysis of 223 cases
-
-
United Kingdom (Great Britain)
-
-
0
-
-
CMH
-
1
1
Johan den Dunnen
00064110
-
PubMed: Lopes 2013
,
Journal: Lopes 2013
analysis of 223 cases
-
-
United Kingdom (Great Britain)
-
-
0
-
-
CMH
-
1
1
Johan den Dunnen
00153282
23558691-Pat
PubMed: Cai 2013
2-generation family, 1 affected, unaffected heterozygous carrier parents
F
-
Japan
-
-
0
-
-
MPD
see paper; ...
1
1
Johan den Dunnen
00163858
-
PubMed: Verhagen 2018
,
Journal: Verhagen 2018
-
?
-
Netherlands
-
-
-
yes
-
CMH
-
1
1
Judith Verhagen
00211437
15668942-Pat01
PubMed: Selcen 2005
-
M
-
United States
-
>50y
0
-
-
MFM
progressive weakness (proximal); peripheral neuropathy; no cardiac involvement; EMG myopathic MUPs; CPK raised 4x
1
1
Johan den Dunnen
00211438
15668942-Pat02
PubMed: Selcen 2005
affected father, paternal grandfather
M
-
United States
-
>57y
0
-
-
MFM
progressive weakness (distal > proximal), muscle atrophy, decreased reflexes; no peripheral neuropathy; no cardiac involvement; EMG myopathic MUPs, fibrillation potentials, myotonic discharges; CPK raised 6x
1
3
Johan den Dunnen
00211439
15668942-Pat03
PubMed: Selcen 2005
-
M
-
United States
-
>61y
0
-
-
MFM
progressive weakness (proximal and distal); no peripheral neuropathy; cardiac ow EF, but has coronary artery disease; EMG myopathic MUPs, fibrillation potentials; CPK normal
1
1
Johan den Dunnen
00211440
15668942-Pat04
PubMed: Selcen 2005
affected father and brother
F
-
United States
-
>56y
0
-
-
MFM
progressive weakness (distal > proximal); no peripheral neuropathy; cardiac paroxysmal supraventricular tachycardia; EMG myopathic MUPs, fibrillation potentials; CPK raised 2x
1
3
Johan den Dunnen
00211441
15668942-Pat05
PubMed: Selcen 2005
affected mother, 3 maternal uncles, 1 maternal aunt, maternal great grandmother, 2 sisters
M
-
United States
-
>54y
0
-
-
MFM
progressive weakness (distal > proximal); no peripheral neuropathy; cardiac unusual depolarization, early superior forces; EMG myopathic MUPs, fibrillation potentials, myotonic discharges; CPK raised 2x
1
9
Johan den Dunnen
00211442
15668942-Pat06
PubMed: Selcen 2005
affected father, paternal uncle, paternal grandmother, cousin, 2 brothers
M
-
United States
-
>69y
0
-
-
MFM
progressive weakness (proximal > distal), decreased leg reflexes; peripheral neuropathy; no cardiac involvement; EMG myopathic andneurogenic MUPs, fibrillation potentials; CPK raised 1.2x
1
7
Johan den Dunnen
00211443
15668942-Pat07
PubMed: Selcen 2005
affected father
M
-
United States
-
>45y
0
-
-
MFM
heart palpitations (proximal); no peripheral neuropathy; no cardiac involvement; EMG myopathic MUPs, fibrillation potentials; CPK raised 1.1x
1
2
Johan den Dunnen
00211444
15668942-Pat08
PubMed: Selcen 2005
affected father, paternal uncle
M
-
United States
-
>58y
0
-
-
MFM
progressive weakness (distal), decreased leg reflexes; peripheral neuropathy; no cardiac involvement; EMG myopathic and neurogenic MUPs, myotonic discharges; CPK normal
1
3
Johan den Dunnen
00211445
15668942-Pat09
PubMed: Selcen 2005
affected mother, sister
M
-
United States
-
>64y
0
-
-
MFM
progressive weakness (distal > proximal), tingling, numbness in the feet, muscle atrophy; peripheral neuropathy; cardiac RBBB, prolonged QT; EMG myopathic MUPs, fibrillation potentials, myotonic discharges; CPK raised 2x
1
3
Johan den Dunnen
00211446
15668942-Pat10
PubMed: Selcen 2005
-
F
-
United States
-
>66y
0
-
-
MFM
progressive weakness (distal > proximal), muscle atrophy; no peripheral neuropathy; no cardiac involvement; EMG myopathic MUPs, fibrillation potentials, myotonic discharges; CPK normal
1
1
Johan den Dunnen
00211447
15668942-Pat11
PubMed: Selcen 2005
-
M
-
United States
-
>78y
0
-
-
MFM
progressive weakness (distal > proximal), distal sensory deficits,perivascular mononuclear cellsepineurium; peripheral neuropathy; no cardiac involvement; EMG severe polyradiculoneuropathy, neurogenic MUPs, fibrillation potentials;
1
1
Johan den Dunnen
00211448
-
PubMed: Vatta 2003
affected father and brother
F
-
United States
-
-
0
-
-
CMD
-
1
3
Johan den Dunnen
00211449
-
PubMed: Vatta 2003
affected mother, 2 brothers and nephew
M
-
United States
-
>40y
0
-
-
CMD
-
1
5
Johan den Dunnen
00211450
-
PubMed: Vatta 2003
-
M
-
United States
Latin American
>4y6m
0
-
-
CMD
profound bradycardia, atrioventricular block, premature ventricular contractions, monomorphic ventricular tachycardia, depressed ventricular function with mild left ventricular dilation
1
1
Johan den Dunnen
00211451
-
PubMed: Vatta 2003
-
F
-
United States
white
>44y
0
-
-
CMD
NYHA functional class III heart failure, left bundle branch block on surface electrocardiogram, reduced systolic function, dilated left ventricular (5.9cm), deep trabeculations, reduced metabolic exercise testing (max. oxygen consumption 58% predicted)
1
1
Johan den Dunnen
00211452
-
PubMed: Vatta 2003
-
M
-
United States
white
>33y
0
-
-
CMD
left/right ventricular trabeculations (intraventricular conduction delay, ventricular bigeminy on electrocardiogram), ECG borderline systolic function, dilated left ventricle
1
1
Johan den Dunnen
00211453
-
PubMed: Vatta 2003
-
M
-
United States
white
>16y
0
-
-
CMD
-
1
1
Johan den Dunnen
00211454
14662268-p
PubMed: Vatta 2003
-
-
-
United States
-
-
0
-
-
CMD
-
1
5
Johan den Dunnen
00211455
14662268-c
-
-
-
-
United States
African American
-
0
-
-
Healthy/Control
-
1
6
Johan den Dunnen
00211456
-
PubMed: Arimura 2004
2-generation family, 6 affecteds (3 deceased), 1 unaffected carrier sister
-
-
Japan
-
-
0
-
-
CMD
-
1
1
Johan den Dunnen
00211457
14660611-p/c
PubMed: Arimura 2004
-
-
-
Japan
-
-
0
-
-
Healthy/Control
-
1
1
Johan den Dunnen
00211458
14660611-p/c
PubMed: Arimura 2004
-
-
-
Japan
-
-
0
-
-
Healthy/Control
-
1
1
Johan den Dunnen
00211459
14660611-p/c
PubMed: Arimura 2004
-
-
-
Japan
-
-
0
-
-
Healthy/Control
-
1
1
Johan den Dunnen
00211460
14660611-p/c
PubMed: Arimura 2004
-
-
-
Japan
-
-
0
-
-
Healthy/Control
-
1
1
Johan den Dunnen
00211461
17337483-Fam
PubMed: Markesbery 1974
,
PubMed: Griggs 2007
4-generation family, 12 affecteds (6 deceased), 4 unaffected carriers
-
-
Finland
-
-
0
-
-
MFM
-
3
6
Johan den Dunnen
00211462
17337483-III.4
PubMed: Griggs 2007
-
F
-
Finland
-
>70y
0
-
-
MFM
45y-tripping; muscle weakness distal legs 0-2, hands 4, hip flexion and extension 3, walks with DAFO; muscle atrophy lower legs, hands and feet interosseus, thenar and hypothenar, minor in distal forearm
1
1
Johan den Dunnen
00211463
17337483-III.5
PubMed: Griggs 2007
-
F
-
Finland
-
>65y
0
-
-
MFM
muscle weakness distal legs 0-2, hands 4, hip flexion and extension 4; muscle atrophy lower legs, hands and feet interosseus, thenar and hypothenar, minor in distal forearm
1
1
Johan den Dunnen
00211464
17337483-IV.5
PubMed: Griggs 2007
-
F
-
Finland
-
>41y
0
-
-
MFM
muscle weakness heel cord contractures; no muscle atrophy
1
1
Johan den Dunnen
00211465
17337483-IV.6
PubMed: Griggs 2007
-
F
-
Finland
-
>57y
0
-
-
MFM
muscle weakness foot dorsiflexion 2/2; no muscle atrophy
1
1
Johan den Dunnen
00211466
17337483-IV.8
PubMed: Griggs 2007
-
M
-
Finland
-
>55y
0
-
-
MFM
not examined
1
1
Johan den Dunnen
00211467
17337483-IV.9
PubMed: Griggs 2007
-
F
-
Finland
-
>54y
0
-
-
MFM
49y-tripping; muscle weakness foot dorsiflexion 5-/5-; no muscle atrophy
1
1
Johan den Dunnen
00211468
17337483-IV.10
PubMed: Griggs 2007
-
F
-
Finland
-
>52y
0
-
-
MFM
muscle weakness foot dorsiflexion 4/4; no muscle atrophy
1
1
Johan den Dunnen
00211469
17337483-IV.11
PubMed: Griggs 2007
-
F
-
Finland
-
>49y
0
-
-
MFM
thus far unaffected
1
1
Johan den Dunnen
00211470
17337483-IV.12
PubMed: Griggs 2007
-
F
-
Finland
-
>45y
0
-
-
MFM
thus far unaffected
1
1
Johan den Dunnen
00211471
17337483-IV.18
PubMed: Griggs 2007
-
M
-
Finland
-
>39y
0
-
-
MFM
thus far unaffected
1
1
Johan den Dunnen
00211472
17337483-FamUK
PubMed: Griggs 2007
-
-
-
United Kingdom (Great Britain)
-
-
0
-
-
MFM
-
1
1
Johan den Dunnen
00211473
17337483-FamFR
PubMed: Griggs 2007
-
-
-
France
-
-
0
-
-
MFM
-
1
1
Johan den Dunnen
00211474
-
PubMed: Arimura 2009
-
-
-
-
-
-
0
-
-
Healthy/Control
-
3
1
Johan den Dunnen
00211475
-
PubMed: Vatta 2003
-
-
-
-
-
-
0
-
-
CMD
-
1
1
Johan den Dunnen
00211476
-
PubMed: Vatta 2003
-
-
-
-
-
-
0
-
-
CMD
-
1
1
Johan den Dunnen
00211477
-
PubMed: Selcen 2005
-
-
-
-
-
-
0
-
-
MFM
-
1
1
Johan den Dunnen
00211478
-
PubMed: Selcen 2005
-
-
-
-
-
-
0
-
-
MFM
-
1
1
Johan den Dunnen
00211479
-
PubMed: Olivé 2011
one family
-
-
Spain
-
-
0
-
-
MFM
-
1
1
Johan den Dunnen
00211480
-
PubMed: Selcen 2005
-
-
-
-
-
-
0
-
-
MFM
-
1
1
Johan den Dunnen
00211481
21676617-Fam2/3
PubMed: Olivé 2011
2 families
-
-
Spain
-
-
0
-
-
MFM
-
1
2
Johan den Dunnen
00290156
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
0
-
-
?
-
1
51
Mohammed Faruq
00290157
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
0
-
-
?
-
1
1
Mohammed Faruq
00290158
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
0
-
-
?
-
1
4
Mohammed Faruq
00290159
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
0
-
-
?
-
1
8
Mohammed Faruq
00290160
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
0
-
-
?
-
1
31
Mohammed Faruq
00290161
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
0
-
-
?
-
1
1
Mohammed Faruq
00290162
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
0
-
-
?
-
1
1
Mohammed Faruq
00290163
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
0
-
-
?
-
1
4
Mohammed Faruq
00295986
-
-
-
F
-
-
-
-
0
-
-
?
Lymphoma (HP:0002665); Exercise-induced myalgia (HP:0003738); Limb-girdle muscular dystrophy (HP:0006785); Depression (HP:0000716); Proximal muscle weakness in upper limbs (HP:0008997)
1
1
Andreas Laner
00296708
NCG_00370
PubMed: Haskell 2017
analysis 55 patients
M
-
United States
white
-
0
-
-
?
hypertrophic cardiomyopathy
1
1
Johan den Dunnen
00304269
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
0
-
-
?
-
1
2
Mohammed Faruq
00317751
-
PubMed: Walsh 2017
-
-
-
United States
-
-
0
-
-
CM
-
1
1
Johan den Dunnen
00317752
-
PubMed: Walsh 2017
-
-
-
United States
-
-
0
-
-
CM
-
1
1
Johan den Dunnen
00317753
-
PubMed: Walsh 2017
-
-
-
United States
-
-
0
-
-
CM
-
1
1
Johan den Dunnen
00317754
-
PubMed: Walsh 2017
-
-
-
United States
-
-
0
-
-
CM
-
1
1
Johan den Dunnen
00317755
-
PubMed: Walsh 2017
-
-
-
United States
-
-
0
-
-
CM
-
1
1
Johan den Dunnen
00317756
-
PubMed: Walsh 2017
-
-
-
United States
-
-
0
-
-
CM
-
1
1
Johan den Dunnen
00317757
-
PubMed: Walsh 2017
-
-
-
United States
-
-
0
-
-
CM
-
1
1
Johan den Dunnen
00317758
-
PubMed: Walsh 2017
-
-
-
United States
-
-
0
-
-
CM
-
1
1
Johan den Dunnen
00317759
-
PubMed: Walsh 2017
-
-
-
United States
-
-
0
-
-
CM
-
1
1
Johan den Dunnen
00317760
-
PubMed: Walsh 2017
-
-
-
United States
-
-
0
-
-
CM
-
1
1
Johan den Dunnen
00317761
-
PubMed: Walsh 2017
-
-
-
United States
-
-
0
-
-
CM
-
1
1
Johan den Dunnen
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