All individuals with variants in gene SGCG

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.

469 entries on 5 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5		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
00072206	25802879-Fam1Pat1	PubMed: Al-Zaidy 2015, Journal: Al-Zaidy 2015	2-generation family, 1 affected, unaffected heterozygous carrier parents/half-sisters	F	no	Puerto Rico	Hispanic	>11y	-	-	-	LGMDR5;LGMD2C	proximal muscle weakness (HP:0003701), no motor delay (-HP:0001270), no cognitive impairment (-HP:0100543), no ambulation (-HP:0002540), bilateral calf hypertrophy (HP:0008981), mild scapular winging (HP:0003691), no joint contractures (-HP:0001371)	1	1	Jamie Zeegers
00072208	25802879-Fam2Pat2	PubMed: Al-Zaidy 2015, Journal: Al-Zaidy 2015	2-generation family, 1 affected, unaffected heterozygous carrier mother	M	yes	Puerto Rico	Puerto Rican	>18y	-	-	-	LGMDR5;LGMD2C	proximal muscle weakness (HP:0003701), no ambulation (-HP:0002540), bilateral calf hypertrophy (HP:0008981), mild scapular winging (HP:0003691), no joint contractures (-HP:0001371), pelvic girdle muscles weakness (HP:0003749), lordosis (HP:0003307), waddling gait (HP:0002515), macroglossia (HP:0000158), no facial weakness (-HP:0010628)	1	1	Jamie Zeegers
00132996	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	2	1	Gabriele Dekomien
00132997	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	2	1	Gabriele Dekomien
00133000	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	2	1	Gabriele Dekomien
00133025	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	2	1	Gabriele Dekomien
00133026	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	1	1	Gabriele Dekomien
00133027	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	2	1	Gabriele Dekomien
00133028	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	2	1	Gabriele Dekomien
00133031	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	2	1	Gabriele Dekomien
00133034	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	2	1	Gabriele Dekomien
00133036	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	1	1	Gabriele Dekomien
00133043	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	2	1	Gabriele Dekomien
00133050	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	2	1	Gabriele Dekomien
00133056	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	1	1	Gabriele Dekomien
00133064	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	2	1	Gabriele Dekomien
00133065	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	1	1	Gabriele Dekomien
00133066	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	2	1	Gabriele Dekomien
00133067	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	2	1	Gabriele Dekomien
00133068	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	1	1	Gabriele Dekomien
00133077	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	1	1	Gabriele Dekomien
00133078	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	1	1	Gabriele Dekomien
00133079	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	1	1	Gabriele Dekomien
00133083	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	2	1	Gabriele Dekomien
00133084	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	2	1	Gabriele Dekomien
00133091	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	1	1	Gabriele Dekomien
00133096	?	{PMID19056483:Wildforster 2009}	-	-	-	Germany	-	-	-	-	-	LGMD	-	2	1	Gabriele Dekomien
00133097	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	2	1	Gabriele Dekomien
00133103	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	2	1	Gabriele Dekomien
00133107	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	2	1	Gabriele Dekomien
00133108	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	3	1	Gabriele Dekomien
00133109	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	1	1	Gabriele Dekomien
00133110	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	1	1	Gabriele Dekomien
00133123	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	1	1	Gabriele Dekomien
00133124	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	1	1	Gabriele Dekomien
00133133	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	2	1	Gabriele Dekomien
00133134	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	2	1	Gabriele Dekomien
00133135	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	1	1	Gabriele Dekomien
00133136	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	1	1	Gabriele Dekomien
00133139	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	1	1	Gabriele Dekomien
00133140	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	1	1	Gabriele Dekomien
00133148	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	1	1	Gabriele Dekomien
00133154	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	1	1	Gabriele Dekomien
00133156	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	2	1	Gabriele Dekomien
00133157	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	1	1	Gabriele Dekomien
00133160	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	1	1	Gabriele Dekomien
00133162	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	2	1	Gabriele Dekomien
00133163	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	2	1	Gabriele Dekomien
00133168	?	-	-	-	-	Germany	Gypsy	-	-	-	-	LGMD	-	1	1	Gabriele Dekomien
00133169	?	-	-	-	-	Germany	Gypsy	-	-	-	-	LGMD	-	2	1	Gabriele Dekomien
00133170	?	-	-	-	-	Germany	Gypsy	-	-	-	-	LGMD	-	2	1	Gabriele Dekomien
00133171	?	-	-	-	-	Germany	Gypsy	-	-	-	-	LGMD	-	2	1	Gabriele Dekomien
00133173	?	-	-	-	-	Germany	Gypsy	-	-	-	-	LGMD	-	2	1	Gabriele Dekomien
00133179	?	-	-	-	-	Germany	Gypsy	-	-	-	-	LGMD	-	2	1	Gabriele Dekomien
00133181	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	1	1	Gabriele Dekomien
00133182	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	1	1	Gabriele Dekomien
00133184	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	1	1	Gabriele Dekomien
00133185	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	1	1	Gabriele Dekomien
00133188	?	-	-	-	-	Germany	Gypsy	-	-	-	-	LGMD	-	2	1	Gabriele Dekomien
00133189	?	-	-	-	-	Germany	Gypsy	-	-	-	-	LGMD	-	2	1	Gabriele Dekomien
00133195	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	2	1	Gabriele Dekomien
00133199	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	1	1	Gabriele Dekomien
00133200	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	1	1	Gabriele Dekomien
00133207	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	2	1	Gabriele Dekomien
00133208	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	1	1	Gabriele Dekomien
00133209	?	-	-	-	-	Germany	-	-	-	-	-	LGMD	-	1	1	Gabriele Dekomien
00133289	-	PubMed: Dos Santos 2001	brother of 11693784.2	M	-	Portugal	-	-	-	-	-	BMD	progressive; shoulder and pelvic girdle wasting, calf hypertrophy, lumbar lordosis; no intellectual disability (-HP:0001249); >32y-inable to walk (HP:0002540)	1	1	Rosário dos Santos
00133431	-	PubMed: Dos Santos 2001	sister of 11693784.1	F	-	Portugal	-	-	-	-	-	LGMD	myopathic gait; no intellectual disability (-HP:0001249)	1	1	Rosário dos Santos
00133510	private email	contact me for details	-	F	no	India	-	>25y	-	-	-	LGMD	-	4	1	Johan den Dunnen
00133804	-	PubMed: McNally, PubMed: Duggan	-	M	-	Israel	Palestin	-	-	-	-	LGMD	>10y-inable to walk (HP:0002540)	2	1	Johan den Dunnen
00133805	-	PubMed: Ben Othmane, PubMed: Ben Othmane 1995, PubMed: Noguchi 1995, OMIM:var0001	muscle RNA	-	-	Tunisia	-	-	-	-	-	SCARMD	-	2	3	Johan den Dunnen
00133806	-	PubMed: Fendri 2006	first cousin parents	M	-	Tunisia	-	>21y	-	-	-	LGMD	16y-inable to walk (HP:0002540); 1274 elevated CPK (HP:0003236)	2	1	Johan den Dunnen
00133807	-	PubMed: Ten Dam 2019	-	F	-	Netherlands	-	-	-	-	-	LGMD	proximal muscle weakness lower extremity; 12y-loss ambulation; no cardiac involvement	1	1	Ieke Ginjaar
00133808	-	PubMed: McNally 1996, PubMed: Moreira 2003, PubMed: Passos-Bueno, OMIM:var0001	2 male, 1 female patient	M	-	Brazil	-	-	-	-	-	LGMD	mild, myopathic; >10y-inable to walk (HP:0002540); 40x elevated CPK (HP:0003236)	2	3	Johan den Dunnen
00133809	-	PubMed: Bonnemann	-	F	-	Australia	-	-	-	-	-	LGMD	>9y-inable to walk (HP:0002540)	2	1	Johan den Dunnen
00133810	-	Goldberg, ASHG2004, P2640	5 affecteds	-	-	Israel	Bedouin	-	-	-	-	MD	-	2	5	Johan den Dunnen
00133811	Fam70Pat1/Pat6	PubMed: Ginjaar 2000, PubMed: Ten Dam 2019	-	F	-	Morocco	-	>21y	-	-	-	LGMD	11y-inable to walk (HP:0002540); 80x elevated CPK (HP:0003236)	1	1	Ieke Ginjaar
00133812	-	PubMed: McNally 1996, PubMed: Moreira 2003, OMIM:var0001	4 affecteds (1M, 3F)	F	-	Brazil	-	>15y	-	-	-	LGMD	severe, myopathic; 15y-inable to walk (HP:0002540); 8x elevated CPK (HP:0003236)	2	4	Johan den Dunnen
00133813	-	PubMed: McNally 1996, PubMed: Moreira 2003, OMIM:var0001	affecteds 1M, 2F	M	-	Brazil	-	>10y	-	-	-	LGMD	severe, myopathic; 10y-inable to walk (HP:0002540); 11x elevated CPK (HP:0003236)	2	1	Johan den Dunnen
00133814	-	PubMed: McNally 1996, PubMed: Moreira 2003, OMIM:var0001	4 affecteds (4F)	F	-	Brazil	-	-	-	-	-	LGMD	>8y-inable to walk (HP:0002540); 15x elevated CPK (HP:0003236)	2	4	Johan den Dunnen
00133815	-	PubMed: Moreira 2003	-	F	-	Brazil	-	-	-	-	-	LGMD	>11y-inable to walk (HP:0002540); 15x elevated CPK (HP:0003236)	2	1	Johan den Dunnen
00133816	-	PubMed: Moreira 2003	brother LG93.2	M	-	Brazil	-	-	-	-	-	LGMD	severe; 12y-inable to walk (HP:0002540); 6x elevated CPK (HP:0003236)	2	1	Johan den Dunnen
00133817	-	PubMed: Moreira 2003	sister of LG94.2	F	-	Brazil	-	-	-	-	-	LGMD	81x elevated CPK (HP:0003236)	2	1	Johan den Dunnen
00133818	-	PubMed: Moreira 2003	-	F	-	Brazil	-	-	-	-	-	LGMD	>14y-inable to walk (HP:0002540); 78x elevated CPK (HP:0003236)	2	1	Johan den Dunnen
00133819	-	PubMed: Garcia-Garcia	-	-	-	Spain	Gypsy	-	-	-	-	LGMD	-	2	1	Johan den Dunnen
00133820	-	PubMed: Crosbie 2000	7 large families; shared haplotype	-	-	-	Gypsy	-	-	-	-	LGMD	-	2	7	Johan den Dunnen
00133821	-	Merlini, 2001, Acta Myologica 20: 188-191	extensive phenotypic study	-	-	Bulgaria	Gypsy	-	-	-	-	LGMD	-	2	21	Johan den Dunnen
00133822	-	Merlini, 2001, Acta Myologica 20: 188-191	extensive phenotypic study	-	-	Germany	Gypsy	-	-	-	-	LGMD	-	2	2	Johan den Dunnen
00133823	-	Merlini, 2001, Acta Myologica 20: 188-191	extensive phenotypic study	-	-	France	Gypsy	-	-	-	-	LGMD	-	2	4	Johan den Dunnen
00133824	-	Merlini, 2001, Acta Myologica 20: 188-191	extensive phenotypic study	-	-	Italy	Gypsy	-	-	-	-	LGMD	-	2	2	Johan den Dunnen
00133825	-	Merlini, 2001, Acta Myologica 20: 188-191	extensive phenotypic study	-	-	Portugal	Gypsy	-	-	-	-	LGMD	-	2	2	Johan den Dunnen
00133826	-	Merlini, 2001, Acta Myologica 20: 188-191	extensive phenotypic study	-	-	Spain	Gypsy	-	-	-	-	LGMD	-	2	4	Johan den Dunnen
00133827	-	PubMed: Boito	-	F	-	Italy	-	-	-	-	-	MD	-	2	1	Johan den Dunnen
00133828	-	PubMed: Todorova 1999, PubMed: Todorova 2004, OMIM:var0002	45 homozygous patients; shared haplotype	-	-	Bulgaria	Gypsy	-	-	-	-	MD	-	2	45	Johan den Dunnen
00133829	-	PubMed: McNally, PubMed: Duggan, OMIM:var0003	father not available	F	-	-	United States/Italy	-	-	-	-	MD	>12y-inable to walk (HP:0002540)	2	1	Johan den Dunnen
00133830	-	-	-	-	-	Turkey	-	-	-	-	-	LGMD	-	2	1	Andrea Nuccitelli
00133831	-	PubMed: McNally, PubMed: Duggan, OMIM:var0004	-	M	-	-	United States/Italy	-	-	-	-	LGMD	17y-inable to walk (HP:0002540)	2	1	Johan den Dunnen
00133832	-	PubMed: McNally, PubMed: Duggan, OMIM:var0006	-	F	-	-	United States/Italy	-	-	-	-	MD	14y-inable to walk (HP:0002540)	2	1	Johan den Dunnen
00133833	-	PubMed: Noguchi 1995	-	-	-	Japan	-	-	-	-	-	SCARMD	-	1	1	Johan den Dunnen
00133834	Family/Pat33	PubMed: Van Der Kooi 1998, PubMed: Ginjaar 2000, PubMed: Ten Dam 2019	7-generation family, family, 5 affected (F, 4M)	M	yes	Netherlands	-	>56y	-	-	-	LGMD	46y-inable to walk (HP:0002540); 2x elevated CPK (HP:0003236)	1	5	Ieke Ginjaar

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Global Variome shared LOVD

SGCG (sarcoglycan, gamma (35kDa dystrophin-associa...))