Global Variome shared LOVD
TRIM32 (tripartite motif containing 32)
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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View all diseases associated with gene TRIM32
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All individuals with variants in gene TRIM32
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.
146 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
00208554
-
-
-
F
-
Germany
-
-
-
-
-
-
HP:0008981 (Calf muscle hypertrophy)
1
1
Andreas Laner
00208793
-
-
-
F
-
Germany
-
-
-
-
-
-
HP:0011805 (Abnormality of muscle morphology); HP:0003198 (Myopathy)
1
1
Andreas Laner
00213604
-
PubMed: Frosk 2002
,
PubMed: Frosk 2005
41 patients Hutterite families Schmiede-, Darius- and Lehrerleut; common ancestor
-
-
-
-
-
-
-
-
LGMD
Schmiede-, Darius- and Lehrerleut
2
41
Johan den Dunnen
00213605
-
PubMed: Schoser 2005
,
PubMed: Jerusalem 1973
Hutterite, South Dakota; 2 brothers; founder mutation
M
-
United States
-
-
-
-
-
MYOP
-
2
2
Johan den Dunnen
00213606
-
PubMed: Schoser 2005
,
PubMed: Muller-Felber 1999
2 affected brothers; common ancestor
M
-
Germany
-
-
-
-
-
MYOP
-
2
2
Johan den Dunnen
00213607
-
PubMed: Chiang 2006
,
OMIM:var0002
4 affecteds (2M, 2F)
-
-
Israel
Bedouin Arab
-
-
-
-
BBS
-
2
4
Johan den Dunnen
00213608
-
PubMed: Saccone 2007
-
M
-
Italy
-
-
-
-
-
LGMD
progressive difficulty rising from floor, climbing stairs, walking; wheelchair bound 64y; FVC 0.41
2
1
Johan den Dunnen
00213609
-
PubMed: Saccone 2007
-
M
-
Italy
-
>15y
-
-
-
LGMD
muscle cramps after exercise, scapular winging, no calve hypertrophy; CPK raised 4-5x
1
1
Johan den Dunnen
00213610
-
PubMed: Saccone 2007
-
F
-
Croatia (Hrvatska)
-
>44y
-
-
-
LGMD
weakness (proximal, slow progressive), muscle waisting, respirtory weakness, keratitis (chronic); CPK normal
2
1
Johan den Dunnen
00213611
-
PubMed: Saccone 2007
5 siblings died of cardiovascular events
M
-
Italy
-
>73y
-
-
-
LGMD
calf hypertrophy, mild ankle contractions,scapular winging, hypertension, typeII diabetes; CPK raised 2.5x
1
1
Johan den Dunnen
00213612
19303295.1
PubMed: Cossee 2009
-
F
-
Turkey
-
-
-
-
-
LGMD
37y-diffuse myalgia, arthralgia, mild proximal lower limb deficit; 42y-walking difficulties, proximal weakness 4 limbs; wheelchair bound >51y; CPK 744
2
1
Johan den Dunnen
00213613
-
from website {DBsub-Emory}
-
-
-
(United States)
-
-
-
-
-
?
-
1
1
Madhuri Hegde
00213614
-
from website {DBsub-Emory}
-
-
-
(United States)
-
-
-
-
-
?
-
1
1
Madhuri Hegde
00213615
-
from website {DBsub-Emory}
-
-
-
(United States)
-
-
-
-
-
?
-
1
1
Madhuri Hegde
00213616
-
from website {DBsub-Emory}
-
-
-
(United States)
-
-
-
-
-
?
-
1
1
Madhuri Hegde
00213617
-
from website {DBsub-Emory}
-
-
-
(United States)
-
-
-
-
-
?
-
1
1
Madhuri Hegde
00213618
-
from website {DBsub-Emory}
-
-
-
(United States)
-
-
-
-
-
?
-
1
1
Madhuri Hegde
00213620
25351777-Pat1
PubMed: Nectoux 2015
3-generation family, 1 affected, unaffected parents
M
-
France
-
-
-
-
-
LGMD
progressive muscle weakness, difficulties in lifting weights, scapular winging and waddling gait; CPK 400; no intellectual disability
2
1
Juliette Nectoux
00213621
25351777-Fam2Pat2
PubMed: Nectoux 2015
2-generation family, 1 affected, unaffected parents
M
-
France
-
-
-
-
-
LGMD
late onset mild cognitive impairment
1
1
Aleksandra Nadaj Pakleza
00219541
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00219574
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00219579
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00219596
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00219614
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
2
1
Madhuri Hegde
00219692
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00219719
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00219754
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
Healthy/Control, LGMD
-
1
1
Madhuri Hegde
00219918
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00219940
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00220076
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00220090
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00220104
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00220197
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00220214
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00220270
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00220292
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00220299
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00220367
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00220374
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00220391
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00220424
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00220431
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00220461
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00220464
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00220479
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00220614
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
2
1
Madhuri Hegde
00220678
30564623-Pat
PubMed: Nallamilli 2018
-
M
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00220735
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00220753
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00220781
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00220794
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00220797
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00220814
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00220837
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00220848
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00220879
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00220928
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00220939
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00220979
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00221011
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00221154
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00221164
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00221191
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00221240
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00221572
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00221621
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00221626
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00221654
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00221685
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00221715
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00221777
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00221821
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
2
1
Madhuri Hegde
00221930
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00221954
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00221989
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00221998
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00222064
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00222076
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
2
1
Madhuri Hegde
00222104
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00222181
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00222259
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00222260
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00222284
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00222414
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00222449
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00222467
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00222536
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00222567
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00222580
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00222641
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00222676
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00222732
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
LGMD
-
1
1
Madhuri Hegde
00226094
-
PubMed: Ten Dam 2019
2-generation family, 1 affected, unaffected heterozygous carrier parents
F
-
Netherlands
-
-
-
-
-
LGMD
proximal muscle weakness lower limbs (HP:0008994) and in disease course upper limbs (HP:0008997) and shoulder girdle (HP:0003547); cardiac involvement; elevated serum CK 125U/L (HP:0003236); 41y loss ability to walk (HP:0002540); 64y non-invasive ventilation
1
1
Ieke Ginjaar
00269600
-
-
-
M
-
-
-
-
-
-
-
-
Hemiparesis (HP:0001269); Generalized amyotrophy (HP:0003700); Necrotizing myopathy (HP:0008978); onset symptoms 7-8y
1
1
Andreas Laner
00294730
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
?
-
1
2
Mohammed Faruq
00305860
P159
PubMed: Yu 2017
analysis 180 LGMD patients
M
-
China
-
-
-
-
-
LGMD
mild (MRC grade ≥4/5); lower limbs more severe than upper limbs; elevated serum CK (max. 698 IU/L); biopsy dystrophic; non-rimmed vacuole;
1
1
Johan den Dunnen
00313968
Pat1
PubMed: Johnson 2019
-
-
-
-
-
-
-
-
-
LGMD
-
1
1
Johan den Dunnen
00313969
Pat2
PubMed: Johnson 2019
-
-
-
-
-
-
-
-
-
LGMD
-
1
1
Johan den Dunnen
00313970
Pat3
PubMed: Johnson 2019
-
-
-
-
-
-
-
-
-
LGMD
-
1
1
Johan den Dunnen
00313971
Pat4
PubMed: Johnson 2019
-
-
-
-
-
-
-
-
-
LGMD
-
1
1
Johan den Dunnen
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