All individuals with variants in gene SGCD

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.

134 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
00000208	-	PubMed: Sun 2011, Journal: Sun 2011	-	M	no	Netherlands	-	-	-	-	-	CHTE	central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)	1	1	Yu Sun
00133075	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	2	1	Gabriele Dekomien
00133076	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	2	1	Gabriele Dekomien
00133118	2009P16.30-IV.11	{PMID19259135:Bauer 2009}	4-generation family, 4 affecteds	F	-	Germany	Arab	-	-	-	-	LGMD	-	2	1	Gabriele Dekomien
00133149	?	{PMID19259135:Bauer 2009}	4 unaffected relatives of 2009P16.30-IV.11	-	-	Germany	Arab	-	-	-	-	?	-	2	4	Gabriele Dekomien
00133150	2009P16.30-IV.12	{PMID19259135:Bauer 2009}	sister of 2009P16.30-IV.11	F	-	Germany	Arab	-	-	-	-	LGMD	-	2	1	Gabriele Dekomien
00133151	2009P16.30-IV.13	{PMID19259135:Bauer 2009}	brother of 2009P16.30-IV.11	M	-	Germany	Arab	-	-	-	-	LGMD	-	2	1	Gabriele Dekomien
00133175	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	1	1	Gabriele Dekomien
00133176	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	1	1	Gabriele Dekomien
00133177	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	2	1	Gabriele Dekomien
00133178	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	2	1	Gabriele Dekomien
00133510	private email	contact me for details	-	F	no	India	-	>25y	-	-	-	LGMD	-	12	1	Johan den Dunnen
00133618	-	PubMed: Trabelsi 2008, PubMed: Saillour 2008	-	-	-	(France)	-	-	-	-	-	LGMD	-	1	1	Johan den Dunnen
00133666	-	PubMed: Duggan 1997, OMIM:var0003	-	F	-	United States	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00133667	-	PubMed: Nigro	potential mutation in one patient	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00133668	-	PubMed: Nigro 1996, PubMed: Moreira 2003, OMIM:var0001	3 affecteds (1M, 2F)	-	-	Brazil	-	-	-	-	-	MD	-	2	3	Johan den Dunnen
00133669	-	PubMed: Nigro 1996, PubMed: Moreira 2003, OMIM:var0001	3 affecteds (1M, 2F)	-	-	Brazil	-	-	-	-	-	MD	-	2	3	Johan den Dunnen
00133670	-	PubMed: Nigro 1996, PubMed: Moreira 2003, OMIM:var0001	-	M	-	Brazil	-	-	-	-	-	MD	-	2	1	Johan den Dunnen
00133671	-	PubMed: Nigro 1996, PubMed: Moreira 2003, OMIM:var0001	-	F	-	Brazil	-	-	-	-	-	MD	-	2	1	Johan den Dunnen
00133672	-	PubMed: Duggan 1997, OMIM:var0002	child adopted	F	-	United States	-	-	-	-	-	MD	-	2	1	Johan den Dunnen
00133673	-	PubMed: Moreira, PubMed: Moreira 2003, OMIM:var0004	-	F	-	Brazil	-	-	-	-	-	LGMD	-	2	1	Johan den Dunnen
00133674	-	PubMed: Dincer	-	-	-	Turkey	-	-	-	-	-	LGMD	-	2	1	Johan den Dunnen
00133675	-	PubMed: Boito	-	F	-	Italy	-	-	-	-	-	MD	13y-inable to walk (HP:0002540)	2	1	Johan den Dunnen
00133678	-	PubMed: Tsubata, OMIM:var0006	-	-	-	Japan	-	-	-	-	-	CMD	-	1	1	Johan den Dunnen
00133679	-	PubMed: Tsubata, OMIM:var0005	-	-	-	Japan	-	-	-	-	-	CMD	-	1	1	Johan den Dunnen
00133680	-	PubMed: Tsubata	-	-	-	Japan	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00133681	-	PubMed: Nigro	-	-	-	Italy	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00133682	-	PubMed: Nigro	-	-	-	Italy	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00133683	-	PubMed: Sylvius	-	-	-	-	-	-	-	-	-	?	-	1	2	Johan den Dunnen
00133684	-	PubMed: Sylvius	-	-	-	-	-	-	-	-	-	?	-	1	2	Johan den Dunnen
00133685	-	PubMed: Karkkainen 2003	father of 14564412-III.1	M	-	Finland	-	-	-	-	-	CMD	######; normal CPK (-HP:0003236)	1	1	Johan den Dunnen
00133686	-	PubMed: Honda 2007	frequency hypertrophic cardiomyopathy patients with coronary spastic angina 17/31 GG, 12/31 GC and 2/31 CC - in CMH patients without CSA 26/31, 7/31 and 0/31	-	-	Japan	-	-	-	-	-	CMD	-	1	1	Johan den Dunnen
00133687	-	PubMed: Guglieri 2008	-	M	-	Italy	-	>8y	-	-	-	LGMD	-	2	1	Johan den Dunnen
00133688	-	PubMed: Duggan 1997	-	-	-	Japan	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00133689	-	PubMed: Sylvius	-	-	-	Italy	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00133690	-	PubMed: Karkkainen 2003	-	-	-	Finland	-	-	-	-	-	?	-	1	127	Johan den Dunnen
00133691	-	PubMed: Love	-	-	-	New Zealand	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00133692	-	-	-	-	-	Netherlands	-	-	-	-	-	LGMD	-	1	2	Ieke Ginjaar
00133693	-	PubMed: Duggan 1997	-	-	-	United States	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00133694	-	PubMed: Sylvius	-	-	-	France	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00133695	-	PubMed: Karkkainen 2003	-	-	-	Finland	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00133696	-	PubMed: Love	-	-	-	New Zealand	-	-	-	-	-	LGMD	-	1	3	Johan den Dunnen
00133697	-	-	-	-	-	Netherlands	-	-	-	-	-	LGMD	-	1	8	Ieke Ginjaar
00133698	-	-	-	M	-	India	Bengalee	-	-	-	-	CMD	-	1	1	Kanchan Pathak
00133700	-	PubMed: Klinge 2008	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	LGMD	severe; 12y-inable to walk (HP:0002540); 12y-19,000 elevated CPK (HP:0003236)	2	1	Johan den Dunnen
00133701	-	PubMed: Karkkainen 2003	son of 14564412-II.1	M	-	Finland	-	-	-	-	-	CMD	32y-symptomless, normal ejection fraction (67%), left ventricle slightly dilated (end-diastolic diameter 61 mm), ECG normal, no skeletal muscle disease; normal CPK (-HP:0003236)	1	1	Johan den Dunnen
00133702	-	PubMed: Bauer 2009	10 unaffected carrier relatives of 2009P16.30-IV.11; no muscle eakness, no CMD	-	yes	(Germany)	-	-	-	-	-	?	-	1	10	Gabriele Dekomien
00133703	-	PubMed: Bauer 2009	3 unaffected carrier relatives of 2009P16.30-IV.11; no muscle eakness, no CMD (once 64y)	-	-	(Germany)	Arab	-	-	-	-	?	-	1	3	Gabriele Dekomien
00133704	-	PubMed: Khadlikar 2009	-	-	-	India	-	-	-	-	-	LGMD	-	1	1	Johan den Dunnen
00133705	-	PubMed: Khadlikar 2009	-	-	-	India	-	-	-	-	-	LGMD	-	2	1	Johan den Dunnen
00133706	-	PubMed: Khadlikar 2009	-	-	-	India	-	-	-	-	-	LGMD	-	1	1	Johan den Dunnen
00133707	-	PubMed: Khadlikar 2009	-	-	-	India	-	-	-	-	-	LGMD	-	2	1	Johan den Dunnen
00133708	-	PubMed: Khadlikar 2009	-	-	-	India	-	-	-	-	-	LGMD	-	2	1	Johan den Dunnen
00133709	-	PubMed: Ordonez-Razo 2010	-	-	-	Mexico	Triquis	-	-	-	-	?	-	2	12	Johan den Dunnen
00133710	-	PubMed: Ordonez-Razo 2010	-	-	-	Mexico	Mayas	-	-	-	-	?	-	2	5	Johan den Dunnen
00133711	-	PubMed: Ordonez-Razo 2010	-	-	-	Mexico	Zapotecos	-	-	-	-	?	-	2	6	Johan den Dunnen
00133712	-	PubMed: Ordonez-Razo 2010	-	-	-	Mexico	Nahuas	-	-	-	-	?	-	2	13	Johan den Dunnen
00133713	-	PubMed: Ordonez-Razo 2010	-	-	-	Mexico	Mixtecos	-	-	-	-	?	-	2	12	Johan den Dunnen
00133714	-	PubMed: Ordonez-Razo 2010	-	-	-	Mexico	Mestizos	-	-	-	-	?	-	2	19	Johan den Dunnen
00133715	-	PubMed: Ordonez-Razo 2010	-	-	-	Mexico	Triquis	-	-	-	-	?	-	1	7	Johan den Dunnen
00133716	-	PubMed: Ordonez-Razo 2010	-	-	-	Mexico	Mayas	-	-	-	-	?	-	1	12	Johan den Dunnen
00133717	-	PubMed: Ordonez-Razo 2010	-	-	-	Mexico	Zapotecos	-	-	-	-	?	-	1	11	Johan den Dunnen
00133718	-	PubMed: Ordonez-Razo 2010	-	-	-	Mexico	Nahuas	-	-	-	-	?	-	1	18	Johan den Dunnen
00133719	-	PubMed: Ordonez-Razo 2010	-	-	-	Mexico	Mixtecos	-	-	-	-	?	-	1	29	Johan den Dunnen
00133720	-	PubMed: Ordonez-Razo 2010	-	-	-	Mexico	Mestizos	-	-	-	-	?	-	1	53	Johan den Dunnen
00174799	Pat250a;A8(II3)	PubMed: Fichna 2018, PubMed: Macias 2021	2-generation family, 2 affected brothers, unaffected heterozygous carrier parents	M	-	Poland	-	-	-	-	-	LGMD	onset overt symptoms adulthood; CPK raised 12x; upper limb predominant involvement; muscle hypertrophy, scapular winging; ambulation preserved	1	2	Johan den Dunnen
00183393	Patient IX	PubMed: Giugliano 2018	-	M	-	Italy	-	-	-	-	-	LGMD	onset juvenile, muscle weakness proximal (lower > upper limbs), elevated CPK (20x), EMG myopathic, biopsy dystrophic features, respiratory function 0.758 (2720mL)	1	1	Teresa Giugliano
00219635	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219936	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220038	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220070	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220215	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
00220333	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220536	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220574	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220658	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220766	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220802	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
00221071	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221443	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221549	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221619	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221812	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
00222103	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00222170	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00222411	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00222499	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00222634	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00265476	Pat26	PubMed: Özyilmaz 2019	2-generation family, affected, unaffected heterozygous carrier parents	M	-	Turkey	-	-	-	-	-	LGMD	high CK, difficulty walking, seizures	1	1	Johan den Dunnen
00293801	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	99	Mohammed Faruq
00293802	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	2	Mohammed Faruq
00305023	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	2	Mohammed Faruq
00305833	P129	PubMed: Yu 2017	analysis 180 LGMD patients	M	-	China	-	-	-	-	-	LGMD	mild (MRC grade ≥4/5); lower limbs more severe than upper limbs; distal weakness; hypertrophy; contractures; elevated serum CK (max. 6465 IU/L); biopsy dystrophic; inflammation	1	1	Johan den Dunnen
00313753	Fam87Pat1	PubMed: Magri 2015	-	M	-	Italy	-	-	-	-	-	LGMD	-	1	1	Johan den Dunnen
00314540	patient	PubMed: Topf 2020	analysis 1001 patients with unexplained limb-girdle weakness	-	-	-	-	-	-	-	-	LGMD	-	1	1	Johan den Dunnen
00314541	patient	PubMed: Topf 2020	analysis 1001 patients with unexplained limb-girdle weakness	-	-	-	-	-	-	-	-	LGMD	-	1	1	Johan den Dunnen
00317885	-	PubMed: Walsh 2017	-	-	-	United States	-	-	-	-	-	CM	-	1	1	Johan den Dunnen

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Global Variome shared LOVD

SGCD (sarcoglycan, delta (35kDa dystrophin-associa...))