All individuals with variants in gene TCAP

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.

148 entries on 2 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2		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
00064069	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064119	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064709	-	-	-	M	-	Denmark	-	26y	-	-	-	SUD	-	1	1	Sofie Lindgren Christiansen
00064728	-	-	-	M	-	Denmark	-	33y	-	-	-	SUD	-	1	1	Sofie Lindgren Christiansen
00174790	Pat270a	PubMed: Fichna 2018	-	F	yes	Poland	-	-	-	-	-	LGMD	onset overt symptoms early childhood; CPK raised 1.4x; limb-girdle weakness; generalized muscle atrophy, contractures in lower limbs; ambulation preserved	1	1	Johan den Dunnen
00213378	-	Lima WMS2005 L.P.3.02	4 affecteds 3 families	-	-	Brazil	-	-	-	-	-	LGMD	-	1	4	Johan den Dunnen
00213379	-	PubMed: Moreira	2 affecteds families	M	-	Brazil	-	-	-	-	-	LGMD	-	1	2	Johan den Dunnen
00213380	-	PubMed: Moreira	-	-	-	-	-	-	-	-	-	LGMD	-	2	1	Johan den Dunnen
00213382	-	PubMed: Hayashi 2004	-	-	-	Japan;Korea	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00213383	-	Perrot (Berlin), EJHFS2005	-	F	-	Germany	-	>55y	-	-	-	?	cardiomyopathy, hypertrophic 9 ?	1	1	Johan den Dunnen
00213385	15	PubMed: Bos 2006	-	F	-	United States	white	>65y	-	-	-	CMH	dyspnea, atric fibrilation	1	1	Johan den Dunnen
00213387	-	PubMed: Hayashi 2004	-	-	-	Japan;Korea	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00213388	-	PubMed: Knoll 2002	-	F	-	Germany	-	>46y	-	-	-	?	cardiomyopathy, dilated 1N ?	1	1	Johan den Dunnen
00213389	16	PubMed: Bos 2006	-	F	-	United States	white	>45y	-	-	-	CMH	dyspnea, angina, presyncope	1	1	Johan den Dunnen
00213391	-	PubMed: Bos 2006	-	M	-	United States	white	>53y	-	-	-	?	CMH, dyspnea, (pre)syncope	1	1	Johan den Dunnen
00213392	-	PubMed: Marziliano 2006	-	-	-	Italy	white	-	-	-	-	CMH	CMH or CMD ?	1	2	Johan den Dunnen
00213393	-	PubMed: Perrot 2006	-	-	-	-	white	-	-	-	-	CMH	-	1	3	Johan den Dunnen
00213394	-	PubMed: Hayashi 2004	-	M	-	Korea, South (Republic)	-	>63y	-	-	-	CMD	heart failure 34y, hear transplantation 35y	1	1	Johan den Dunnen
00213395	-	PubMed: Hayashi 2004	affected mother and son	M	-	Japan	-	29y	-	-	-	CMH	-	1	1	Johan den Dunnen
00213396	-	PubMed: Hayashi 2004	-	-	-	Japan;Korea	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00213397	-	PubMed: Hayashi 2004	family, 4 affecteds	M	-	Japan	-	>48y	-	-	-	CMH	-	1	1	Johan den Dunnen
00213398	-	PubMed: Marziliano 2006	-	-	-	Italy	white	-	-	-	-	?	CMH or CMD ?	1	4	Johan den Dunnen
00213399	-	PubMed: Perrot 2006	-	-	-	-	white	-	-	-	-	CMD	-	1	1	Johan den Dunnen
00213400	-	PubMed: Perrot 2006	-	-	-	-	white	-	-	-	-	Healthy/Control	-	1	4	Johan den Dunnen
00213401	-	-	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Tom Winder
00213402	18408010-P1	PubMed: Mazzone 2008	-	M	-	United States	-	>42y	-	-	-	?	primary intestinal pseudo-obstruction, sleep apnea, no overt cardiac phenotype (incl. ECG)	1	1	Johan den Dunnen
00213403	18948002-P1	PubMed: Olive 2008	carrier parents and brother	F	-	Morocco	-	>27y	-	-	-	LGMD	progressive proximal limb weakness lower extremities/distal anterior leg compartment, painful cramps calf muscles; no cardiac or respiratory symptoms; CPK 1826	2	3	Johan den Dunnen
00213404	PatO	PubMed: Andersen 2008, PubMed: Andersen 2009	family, 3 carriers variant, affected father/child double carrier	-	-	Denmark	-	-	-	-	-	CMH	-	1	2	Johan den Dunnen
00213405	19035361-PatM	PubMed: Andersen 2009	only in index patients	-	-	Denmark	-	-	-	-	-	CMH	-	1	2	Johan den Dunnen
00213406	19035361-PatZS	PubMed: Andersen 2009	3-generation family, 2 affecteds	-	-	Denmark	-	-	-	-	-	CMH	-	1	3	Johan den Dunnen
00213407	19412328-D1	PubMed: Hershberger 2009	-	-	-	United States	-	-	-	-	-	CMD	-	1	1	Johan den Dunnen
00213408	19412328-D2	PubMed: Hershberger 2009	-	-	-	United States	-	-	-	-	-	CMD	-	1	1	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
00213410	-	PubMed: Hayashi 2004	affected mother and son	F	-	Japan	-	>62y	-	-	-	CMH	-	1	1	Johan den Dunnen
00213411	-	PubMed: Hayashi 2004	family, 4 affecteds	F	-	Japan	-	67y	-	-	-	CMH	-	1	1	Johan den Dunnen
00213412	-	PubMed: Hayashi 2004	family, 4 affecteds	M	-	Japan	-	21y	-	-	-	CMH	-	1	1	Johan den Dunnen
00213413	-	PubMed: Hayashi 2004	family, 4 affecteds	M	-	Japan	-	19y	-	-	-	CMH	-	1	1	Johan den Dunnen
00213414	19035361-c	PubMed: Andersen 2009	-	-	-	Denmark	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00213415	-	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00213416	-	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00213417	-	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00213418	-	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00213419	Fa,F50-1	PubMed: Francis 2014	4-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives	M	yes	India	Dravidian	-	-	-	-	LGMDR7;LGMD2G	see paper; ..., CPK 3729	1	3	Francis Amirtharaj
00213420	FamF97-1	PubMed: Francis 2014	5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	M	yes	India	Dravidian	-	-	-	-	LGMDR7;LGMD2G	see paper; ..., CPK 1583	1	1	Francis Amirtharaj
00213421	patient 1	PubMed: de Fuenmayor-Fernández de la Hoz 2016	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	yes	Spain	-	-	-	-	-	LGMD	weakness and atrophy in proximal muscles of lower limbs, milder weakness proximal upper limbs, weakness, distal lower extremities mostly tibialis anterior muscle, bilateral Achilles and patellar contractures, bilateral scapular winging, asymmetric calves (left hypertrophy; right atrophy), positive Beevor sign, waddling and equinus gait; able to walk; CPK raised 300-700; no intellectual disability	1	1	Carlos Pablo De Fuenmayor-Fernandez de la Hoz
00219495	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219527	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219658	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219773	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219994	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219996	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220137	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220230	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220351	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220433	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220586	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220637	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220907	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220952	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220957	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221064	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221081	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221083	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221139	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221235	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221258	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221283	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221286	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221396	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221455	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221461	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221673	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221788	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221830	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221911	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221914	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00222059	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00222224	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00222302	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00222377	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00222513	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00228157	cases/controls	PubMed: Francis 2014	-	F;M	-	India	-	-	-	-	-	LGMD2	-	2	1	Johan den Dunnen
00228158	FamPat1/2	PubMed: Ikenberg 2017	6-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives	F	yes	Germany	Turkey	-	-	-	-	LGMD2	see paper; ...	1	2	Johan den Dunnen
00228159	patient	PubMed: Brusa 2018	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	yes	Greece	-	-	-	-	-	LGMD2	see paper; ..., disto-proximal lower limb weakness, no cardiac problems, no respiratory involvement; muscle biopsy myopathic changes with type I fibre hypotrophy, cytoplasmic vacuoles, lipid overload, multiple central nuclei, fibre splittings; ultrastructural examination showed metabolic abnormalities	1	1	Johan den Dunnen
00228161	FamG2	PubMed: Chamova 2018	2-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives	F;M	-	Bulgaria	muslim	-	-	-	-	LGMD2	see paper; ...	1	2	Johan den Dunnen
00228169	D22	PubMed: Marston 2015	-	M	-	Australia	-	-	-	-	-	CMD	-	1	1	Johan den Dunnen
00228170	patient	PubMed: Barresi 2015	2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	M	-	United Kingdom (Great Britain)	India	-	-	-	-	LGMD	see aper; ..., normal motor milestones, became noticeably slower in early teens; 44y-wheelchair bound	1	1	Johan den Dunnen
00228171	patient	PubMed: Wang 2014	-	-	no	China	-	-	-	-	-	LGMD	-	2	1	Johan den Dunnen
00228172	-	PubMed: Hirtle-Lewis 2013	-	-	-	Canada	-	-	-	-	-	CMD	-	1	1	Johan den Dunnen
00228173	-	PubMed: Hirtle-Lewis 2013	-	-	-	Canada	-	-	-	-	-	CMD	-	1	1	Johan den Dunnen
00228174	-	PubMed: Hirtle-Lewis 2013	-	-	-	Canada	-	-	-	-	-	CMD	-	1	2	Johan den Dunnen
00228175	-	PubMed: Hirtle-Lewis 2013	-	-	-	Canada	-	-	-	-	-	CMD	-	1	1	Johan den Dunnen
00228176	-	PubMed: Hirtle-Lewis 2013	-	-	-	Canada	-	-	-	-	-	CMD	-	1	1	Johan den Dunnen
00228177	patient	PubMed: Paim 2013	-	F	no	Brazil	-	-	-	-	-	LGMD	8y-tiptoe walking, left lower limb deformity, frequent falls; 41y-ambulation loss; 54y pelvic girdle atrophy, winging scapula, foot deformity with incapacity to perform ankle dorsiflexion, absent tendon reflexes; atypical histopathological muscle pattern (nemaline rods, type 1 fiber predominance, nuclear internalization, lobulated fibers, mitochondrial paracrystalline inclusion)	1	1	Johan den Dunnen
00228178	patient	PubMed: Ferreiro 2011	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	no	France	-	-	-	-	-	MD	see paper; ..., onset infancy, weakness proximal and distal anterior; joint retractions ankles, hip, lumbar spine; calf hypertrophy, distal joint laxity; muscle biopsy dystrophic, no vacuoles	1	1	Johan den Dunnen
00228179	patient	PubMed: Negrao 2010	-	M	no	Portugal	white	-	-	-	-	LGMD	see paper; ...	1	1	Johan den Dunnen
00228180	-	Waddell 2012, WMS-G.P.41	2-generation family, affected brother/sister, unaffected heterozygous carrier parents	F;M	-	Australia	China;Cambodia	-	-	-	-	LGMD	late teenage slowly progressive muscle weakness; 27y-bilateral Achilles contractures, mild calf hypertrophy, asymmetric scapular winging, normal facial strength except mild weakness eye closure; moderate weakness hip movements/knee extension, mild weakness most other muscle groups, except hand/wrist movement	1	2	Johan den Dunnen
00228181	-	Yee 2007, WMS-G.P.8.15	-	-	-	China	-	-	-	-	-	LGMD	-	1	1	Johan den Dunnen
00228182	-	Yee 2007, WMS-G.P.8.15	family, 2 affected	-	-	China	-	-	-	-	-	LGMD	-	1	2	Johan den Dunnen
00228183	-	Yee 2007, WMS-G.P.8.15	-	-	-	China	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen

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Global Variome shared LOVD

TCAP (titin-cap)