All individuals with variants in gene TNPO3

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.

111 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
00050581	-	PubMed: DDDS 2015, Journal: DDDS 2015	family, 1 affected	F	-	United Kingdom (Great Britain)	-	-	-	Decipher	-	?	patent ductus arteriosus, midline central nervous system lipomas, global developmental delay, abnormality of the sclera, short philtrum	1	1	Johan den Dunnen
00210641	23543484-FamII.1	PubMed: Melia 2013	-	F	no	Spain	-	-	-	-	-	LGMD	-	1	3	Johan den Dunnen
00210642	23543484-FamII.2	PubMed: Melia 2013	-	F	no	Spain	-	-	-	-	-	LGMD	-	1	1	Johan den Dunnen
00210643	23543484-FamII.3	PubMed: Melia 2013	-	F	no	Spain	-	-	-	-	-	LGMD	-	1	1	Johan den Dunnen
00210644	23543484-FamIII.1	PubMed: Melia 2013	-	M	no	Spain	-	-	-	-	-	LGMD	-	1	9	Johan den Dunnen
00210645	23543484-FamIII.2	PubMed: Melia 2013	-	F	no	Spain	-	-	-	-	-	LGMD	-	1	1	Johan den Dunnen
00210646	23543484-FamIII.8	PubMed: Melia 2013	-	M	no	Spain	-	-	-	-	-	LGMD	-	1	1	Johan den Dunnen
00210647	23543484-FamIII.10	PubMed: Melia 2013	-	M	no	Spain	-	>78y	-	-	-	LGMD	proximal weakness/atrophy scapular-humeral/pelvic-femoral; hand atrophy/weakness, lower leg weakness; no retractions/skeletal deformities; no ptosis, no dysphagia; no respiratory insuficiency; dizziness ataxia; Vignos scale 8 (4 38y); Brook scale 4	1	1	Johan den Dunnen
00210648	23543484-FamIII.11	PubMed: Melia 2013	-	F	no	Spain	-	>76y	-	-	-	LGMD	proximal weakness/atrophy scapular-humeral/pelvic-femoral; hand atrophy/weakness, lower leg weakness; no retractions/skeletal deformities; no ptosis, dysphagia; no respiratory insuficiency; dizziness ataxia; Vignos scale 6 (4 47y); Brook scale 4	1	1	Johan den Dunnen
00210649	23543484-FamIII.12	PubMed: Melia 2013	6-generation family, 50 affecteds	F	no	Spain	-	>66y	-	-	-	LGMD	proximal weakness/atrophy pelvic-femoral; hand atrophy?, lower leg weakness?; retractions/skeletal deformities?; no ptosis, no dysphagia; respiratory insuficiency?; dizziness ataxia?; Vignos scale 2; Brook scale 1; CPK 320	1	1	Johan den Dunnen
00210650	23543484-FamIII.14	PubMed: Melia 2013	-	F	no	Spain	-	-	-	-	-	LGMD	-	1	1	Johan den Dunnen
00210651	23543484-FamIII.18	PubMed: Melia 2013	-	M	no	Spain	-	-	-	-	-	LGMD	-	1	1	Johan den Dunnen
00210652	23543484-FamIII.19	PubMed: Melia 2013	-	M	no	Spain	-	-	-	-	-	LGMD	-	1	1	Johan den Dunnen
00210653	23543484-FamIV.1	PubMed: Melia 2013	-	F	no	Spain	-	-	-	-	-	LGMD	-	1	22	Johan den Dunnen
00210654	23543484-FamIV.4	PubMed: Melia 2013	-	F	no	Spain	-	-	-	-	-	LGMD	-	1	1	Johan den Dunnen
00210655	23543484-FamIV.10	PubMed: Melia 2013	-	F	no	Spain	-	-	-	-	-	LGMD	-	1	1	Johan den Dunnen
00210656	23543484-FamIV.11	PubMed: Melia 2013	-	M	no	Spain	-	-	-	-	-	LGMD	-	1	1	Johan den Dunnen
00210657	23543484-FamIV.12	PubMed: Melia 2013	-	M	no	Spain	-	-	-	-	-	LGMD	-	1	1	Johan den Dunnen
00210658	23543484-FamIV.6	PubMed: Melia 2013	-	M	no	Spain	-	>42y	-	-	-	LGMD	proximal weakness/atrophy scapular-humeral/pelvic-femoral; hand atrophy/weakness, lower leg weakness; no retractions/skeletal deformities; no ptosis, dysphagia; nocturnal ventilation; dizziness ataxia; Vignos scale 8 (4 10y); Brook scale 4; CPK 2200	1	1	Johan den Dunnen
00210659	23543484-FamIV.13	PubMed: Melia 2013	-	M	no	Spain	-	>57y	-	-	-	LGMD	proximal weakness/atrophy scapular-humeral/pelvic-femoral; hand atrophy/weakness, lower leg weakness; retractions/skeletal deformities?; ptosis?, dysphagia?; respiratory insuficiency?; dizziness ataxia?; Vignos scale 5 (4 12y); Brook scale 3; CPK 220	1	1	Johan den Dunnen
00210660	23543484-FamIV.14	PubMed: Melia 2013	-	M	no	Spain	-	>55y	-	-	-	LGMD	proximal weakness/atrophy scapular-humeral/pelvic-femoral; hand atrophy/weakness, lower leg weakness; no retractions/skeletal deformities; no ptosis, dysphagia; nocturnal ventilation; dizziness ataxia?; Vignos scale 9 (4 15y); Brook scale 4; CPK 800	1	1	Johan den Dunnen
00210661	23543484-FamIV.16	PubMed: Melia 2013	-	F	no	Spain	-	>47y	-	-	-	LGMD	proximal weakness/atrophy scapular-humeral/pelvic-femoral; hand atrophy?, lower leg weakness?; retractions/skeletal deformities?; no ptosis, no dysphagia; no respiratory insuficiency; no dizziness ataxia; Vignos scale 4 (4 25y); Brook scale 2; CPK 1500	1	1	Johan den Dunnen
00210662	23543484-FamIV.17	PubMed: Melia 2013	-	F	no	Spain	-	>41y	-	-	-	LGMD	no acanthosis nigricans, hepatosplenomegaly, reduced growth hormone secretion, distal dominant muscle weakness, muscle mounding, muscle hypertrophy, caridac arrhythmia, lordosis, contractures (ankles, shoulders, fingers), constipation; CPK 1374	1	1	Johan den Dunnen
00210663	23543484-FamIV.18	PubMed: Melia 2013	-	M	no	Spain	-	>57y	-	-	-	LGMD	proximal weakness/atrophy scapular-humeral/pelvic-femoral; hand atrophy, lower leg weakness; no retractions/skeletal deformities; ptosis, dysphagia; no respiratory insuficiency; dizziness ataxia; Vignos scale 3; Brook scale 2; CPK 210	1	1	Johan den Dunnen
00210664	23543484-FamIV.19	PubMed: Melia 2013	-	F	no	Spain	-	>52y	-	-	-	LGMD	proximal weakness/atrophy scapular-humeral/pelvic-femoral; hand atrophy/weakness, lower leg weakness; no retractions/skeletal deformities; no ptosis, no dysphagia; no respiratory insuficiency; no dizziness ataxia; Vignos scale 4 (4 30y); Brook scale 2; CPK 175	1	1	Johan den Dunnen
00210665	23543484-FamIV.20	PubMed: Melia 2013	-	M	no	Spain	-	>54y	-	-	-	LGMD	no acanthosis nigricans, no muscle weakness, nephrosis; CPK 2000	1	1	Johan den Dunnen
00210666	23543484-FamIV.21	PubMed: Melia 2013	-	M	no	Spain	-	>53y	-	-	-	LGMD	proximal weakness/atrophy pelvic-femoral; hand atrophy/weakness, lower leg weakness; no retractions/skeletal deformities; no ptosis, no dysphagia; no respiratory insuficiency; dizziness ataxia; Vignos scale 5 (4 25y); Brook scale 3; CPK 1500	1	1	Johan den Dunnen
00210667	23543484-FamIV.23	PubMed: Melia 2013	-	M	no	Spain	-	>47y	-	-	-	LGMD	proximal weakness/atrophy scapular-humeral/pelvic-femoral; hand atrophy?, lower leg weakness?; no retractions/skeletal deformities; ptosis?, dysphagia?; respiratory insuficiency?; dizziness ataxia?; Vignos scale 3; Brook scale 2	1	1	Johan den Dunnen
00210668	23543484-FamIV.24	PubMed: Melia 2013	-	F	no	Spain	-	>47y	-	-	-	LGMD	proximal weakness/atrophy pelvic-femoral; hand atrophy, lower leg weakness; retractions/skeletal deformities?; no ptosis, no dysphagia; respiratory insuficiency?; dizziness ataxia?; Vignos scale 2; Brook scale 1; CPK 220	1	1	Johan den Dunnen
00210669	23543484-FamIV.26	PubMed: Melia 2013	-	F	no	Spain	-	>46y	-	-	-	LGMD	proximal weakness/atrophy scapular-humeral/pelvic-femoral; hand atrophy/weakness, lower leg weakness; no retractions/skeletal deformities; no ptosis, dysphagia; no respiratory insuficiency; no dizziness ataxia; Vignos scale 9 (4 15y); Brook scale 4; CPK 295	1	1	Johan den Dunnen
00210670	23543484-FamIV.27	PubMed: Melia 2013	-	M	no	Spain	-	>44y	-	-	-	LGMD	proximal weakness/atrophy scapular-humeral/pelvic-femoral; hand atrophy/weakness, lower leg weakness; retractions/skeletal deformities?; no ptosis, dysphagia; respiratory insuficiency?; dizziness ataxia?; Vignos scale 4 (4 30y); Brook scale 3; CPK 204	1	1	Johan den Dunnen
00210671	23543484-FamIV.28	PubMed: Melia 2013	-	F	no	Spain	-	>41y	-	-	-	LGMD	proximal weakness/atrophy scapular-humeral/pelvic-femoral; hand atrophy, lower leg weakness; no retractions/skeletal deformities; ptosis, no dysphagia; no respiratory insuficiency; dizziness ataxia?; Vignos scale 3; Brook scale 2	1	1	Johan den Dunnen
00210672	23543484-FamIV.29	PubMed: Melia 2013	-	F	no	Spain	-	>40y	-	-	-	LGMD	proximal weakness/atrophy scapular-humeral/pelvic-femoral; hand atrophy, lower leg weakness; no retractions/skeletal deformities; no ptosis, no dysphagia; respiratory insuficiency?; dizziness ataxia?; Vignos scale 3; Brook scale 2	1	1	Johan den Dunnen
00210673	23543484-FamIV.31	PubMed: Melia 2013	-	M	no	Spain	-	>31y	-	-	-	LGMD	no acanthosis nigricans, acromegaloid features, no androgynism, distal dominant muscle weakness, muscle mounding, muscle hypertrophy, scoliosis, recurrent pneumonia, chalaisa, constipation; CPK 645-2630	1	1	Johan den Dunnen
00210674	23543484-FamIV.36	PubMed: Melia 2013	-	M	no	Spain	-	-	-	-	-	LGMD	-	1	1	Johan den Dunnen
00210675	23543484-FamV.1	PubMed: Melia 2013	-	M	no	Spain	-	-	-	-	-	LGMD	-	1	14	Johan den Dunnen
00210676	23543484-FamV.2	PubMed: Melia 2013	-	M	no	Spain	-	-	-	-	-	LGMD	-	1	1	Johan den Dunnen
00210677	23543484-FamV.5	PubMed: Melia 2013	-	F	no	Spain	-	-	-	-	-	LGMD	-	1	1	Johan den Dunnen
00210678	23543484-FamV.6	PubMed: Melia 2013	-	M	no	Spain	-	-	-	-	-	LGMD	-	1	1	Johan den Dunnen
00210679	23543484-FamV.7	PubMed: Melia 2013	-	M	no	Spain	-	>28y	-	-	-	LGMD	proximal weakness/atrophy pelvic-femoral; hand atrophy, lower leg weakness; retractions/skeletal deformities?; ptosis, dysphagia; respiratory insuficiency?; dizziness ataxia?; Vignos scale 3; Brook scale 1; CPK 140	1	1	Johan den Dunnen
00210680	23543484-FamV.9	PubMed: Melia 2013	-	F	no	Spain	-	>27y	-	-	-	LGMD	proximal weakness/atrophy pelvic-femoral; hand atrophy, lower leg weakness; no retractions/skeletal deformities; no ptosis, no dysphagia; respiratory insuficiency?; dizziness ataxia?; Vignos scale 1; Brook scale 1	1	1	Johan den Dunnen
00210681	23543484-FamV.14	PubMed: Melia 2013	-	F	no	Spain	-	-	-	-	-	LGMD	-	1	1	Johan den Dunnen
00210682	23543484-FamV.17	PubMed: Melia 2013	-	M	no	Spain	-	>29y	-	-	-	LGMD	proximal weakness/atrophy pelvic-femoral; hand atrophy?, lower leg weakness?; retractions/skeletal deformities?; no ptosis, no dysphagia; respiratory insuficiency?; dizziness ataxia?; Vignos scale 3; Brook scale 1	1	1	Johan den Dunnen
00210683	23543484-FamV.18	PubMed: Melia 2013	-	F	no	Spain	-	>26y	-	-	-	LGMD	proximal weakness/atrophy pelvic-femoral; hand atrophy?, lower leg weakness?; retractions/skeletal deformities?; no ptosis, no dysphagia; respiratory insuficiency?; dizziness ataxia?; Vignos scale 4 (4 20y); Brook scale 1	1	1	Johan den Dunnen
00210684	23543484-FamV.19	PubMed: Melia 2013	-	M	no	Spain	-	>25y	-	-	-	LGMD	proximal weakness/atrophy scapular-humeral/pelvic-femoral; hand atrophy/weakness, lower leg weakness; no retractions/skeletal deformities; no ptosis, no dysphagia; respiratory insuficiency?; dizziness ataxia?; Vignos scale 4 (4 31y); Brook scale 2; CPK 744	1	1	Johan den Dunnen
00210685	23543484-FamV.20	PubMed: Melia 2013	-	F	no	Spain	-	>28y	-	-	-	LGMD	proximal weakness/atrophy scapular-humeral/pelvic-femoral; hand atrophy, lower leg weakness; no retractions/skeletal deformities; ptosis, dysphagia; nocturnal ventilation; dizziness ataxia; Vignos scale 7 (4 20y); Brook scale 4; CPK 295	1	1	Johan den Dunnen
00210686	23543484-FamV.30	PubMed: Melia 2013	-	F	no	Spain	-	>29y	-	-	-	LGMD	proximal weakness/atrophy scapular-humeral/pelvic-femoral; hand atrophy, lower leg weakness; no retractions/skeletal deformities; no ptosis, no dysphagia; no respiratory insuficiency; dizziness ataxia; Vignos scale 4 (4 25y); Brook scale 3	1	1	Johan den Dunnen
00210687	23543484-FamV.34	PubMed: Melia 2013	-	F	no	Spain	-	>16y	-	-	-	LGMD	proximal weakness/atrophy scapular-humeral/pelvic-femoral; hand atrophy, lower leg weakness; no retractions/skeletal deformities; no ptosis, no dysphagia; no respiratory insuficiency; no dizziness ataxia; Vignos scale 3; Brook scale 2; CPK 210	1	1	Johan den Dunnen
00210688	23543484-FamV.36	PubMed: Melia 2013	-	F	no	Spain	-	>8y	-	-	-	LGMD	proximal weakness/atrophy scapular-humeral/pelvic-femoral; hand atrophy/weakness, lower leg weakness; no retractions/skeletal deformities; no ptosis, no dysphagia; no respiratory insuficiency; no dizziness ataxia; Vignos scale 2; Brook scale 2; CPK 140	1	1	Johan den Dunnen
00210689	23543484-FamVI.3	PubMed: Melia 2013	-	F	no	Spain	-	>7y	-	-	-	LGMD	proximal weakness/atrophy pelvic-femoral; hand atrophy, lower leg weakness; no retractions/skeletal deformities; no ptosis, no dysphagia; no respiratory insuficiency; no dizziness ataxia; Vignos scale 3; Brook scale 1	1	2	Johan den Dunnen
00210690	23543484-FamVI.5	PubMed: Melia 2013	-	F	no	Spain	-	>3y	-	-	-	LGMD	proximal weakness/atrophy pelvic-femoral; hand atrophy, lower leg weakness; no retractions/skeletal deformities; no ptosis, no dysphagia; no respiratory insuficiency; no dizziness ataxia; Vignos scale 3; Brook scale 1	1	1	Johan den Dunnen
00210691	23543484-FamIII.12	PubMed: Torella 2013	7-generation family, 64 affecteds (family contains additional branch not in Melia (2013)	-	no	Spain	-	-	-	-	-	LGMD	-	1	14	Johan den Dunnen
00210692	23543484-Fam	PubMed: Torella 2013	4-generation family, 1 affected	M	no	Spain	-	-	-	-	-	LGMD	onset young adult; muscular histopathology dystrophic features, discrete mitochondrial alterations with sporadic ragged-red fibers,cytochrome c oxidase negative fibers	1	1	Johan den Dunnen
00219446	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219572	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219599	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220010	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220061	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	2	1	Madhuri Hegde
00220064	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	2	1	Madhuri Hegde
00220086	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220151	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220191	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220199	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220388	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220414	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220481	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220513	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220533	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220581	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220595	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220712	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220715	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220726	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220777	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220925	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221032	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221121	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221129	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221244	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221310	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221369	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221538	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221542	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221565	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221593	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221609	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221643	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221652	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221744	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221862	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221947	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00222137	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00222175	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00222177	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00222222	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00222271	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00222273	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00222546	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00222610	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00222679	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde

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Global Variome shared LOVD

TNPO3 (transportin 3)