Disease #02492 (LGMD2E;LGMDR4 (dystrophy, muscular, limb-girdle, type 2E (LGMD-2E)), OMIM:604286)

Official abbreviation	LGMD2E;LGMDR4
Name	dystrophy, muscular, limb-girdle, type 2E (LGMD-2E)
OMIM ID	604286
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	21
Phenotype entries for this disease	19
Associated with 1 gene	SGCB
Associated tissues	-
Disease features	-
Remarks	-

Individuals

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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.

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space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
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^	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'
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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
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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'

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21 entries on 1 page. Showing entries 1 - 21.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00072171	-	PubMed: Semplicini 2015, Journal: Semplicini 2015	No family history	-	-	-	Tunisia	-	-	-	-	LGMD2E;LGMDR4	mild limb-girdle muscular dystrophy (HP:0006785), cardiomyopathy (HP:0001638), proximal muscle weakness (HP:0003701)	SGCB	SGCB	1	1	Jamie Zeegers
00072173	-	PubMed: Semplicini 2015, Journal: Semplicini 2015	No family history	-	-	-	Ivory Coast	-	-	-	-	LGMD2E;LGMDR4	mild limb-girdle muscular dystrophy (HP:0006785), cardiomyopathy (HP:0001638), proximal muscle weakness (HP:0003701)	SGCB	SGCB	1	1	Jamie Zeegers
00072174	-	PubMed: Semplicini 2015, Journal: Semplicini 2015	No family history	-	-	-	Italy	-	-	-	-	LGMD2E;LGMDR4	mild limb-girdle muscular dystrophy (HP:0006785), cardiomyopathy (HP:0001638), proximal muscle weakness (HP:0003701)	SGCB	SGCB	1	1	Jamie Zeegers
00072175	-	PubMed: Semplicini 2015, Journal: Semplicini 2015	No family history	-	-	-	Jordan	-	-	-	-	LGMD2E;LGMDR4	cardiomyopathy (HP:0001638), proximal muscle weakness (HP:0003701)	SGCB	SGCB	1	1	Jamie Zeegers
00072176	-	PubMed: Semplicini 2015, Journal: Semplicini 2015	No family history	-	-	-	Italy	-	-	-	-	LGMD2E;LGMDR4	proximal muscle weakness (HP:0003701)	SGCB	SGCB	1	1	Jamie Zeegers
00072177	-	PubMed: Semplicini 2015, Journal: Semplicini 2015	No family history	-	-	-	French	-	-	-	-	LGMD2E;LGMDR4	mild limb-girdle muscular dystrophy (HP:0006785), proximal muscle weakness (HP:0003701)	SGCB	SGCB	2	1	Jamie Zeegers
00072179	-	PubMed: Semplicini 2015, Journal: Semplicini 2015	No history family	-	-	-	Italian	-	-	-	-	LGMD2E;LGMDR4	severe limb-girdle muscular dystrophy (HP:0006785), cardiomyopathy (HP:0001638), proximal muscle weakness (HP:0003701), distal muscle weakness (HP:0002460)	SGCB	SGCB	1	1	Jamie Zeegers
00072180	-	PubMed: Semplicini 2015, Journal: Semplicini 2015	No family history	-	-	-	Italian	-	-	-	-	LGMD2E;LGMDR4	severe limb-girdle muscular dystrophy (HP:0006785), cardiomyopathy (HP:0001638), proximal muscle weakness (HP:0003701), distal muscle weakness (HP:0002460)	SGCB	SGCB	2	1	Jamie Zeegers
00072181	-	PubMed: Semplicini 2015, Journal: Semplicini 2015	No family history	-	-	-	Italian	-	-	-	-	LGMD2E;LGMDR4	severe limb-girdle muscular dystrophy (HP:0006785), cardiomyopathy (HP:0001638), proximal muscle weakness (HP:0003701), distal muscle weakness (HP:0002460)	SGCB	SGCB	2	1	Jamie Zeegers
00072182	-	PubMed: Semplicini 2015, Journal: Semplicini 2015	No family history	-	-	-	Italian	-	-	-	-	LGMD2E;LGMDR4	mild limb-girdle muscular dystrophy (HP:0006785), proximal muscle weakness (HP:0003701), distal muscle weakness (HP:0002460)	SGCB	SGCB	2	1	Jamie Zeegers
00072184	-	PubMed: Semplicini 2015, Journal: Semplicini 2015	No family history	-	-	-	Albanian	-	-	-	-	LGMD2E;LGMDR4	mild limb-girdle muscular dystrophy (HP:0006785), cardiomyopathy (HP:0001638), proximal muscle weakness (HP:0003701), distal muscle weakness (HP:0002460)	SGCB	SGCB	1	1	Jamie Zeegers
00072185	-	PubMed: Semplicini 2015, Journal: Semplicini 2015	No family history	-	-	-	Denmark	-	-	-	-	LGMD2E;LGMDR4	mild limb-girdle muscular dystrophy (HP:0006785), no cardiomyopathy (-HP:0001638), proximal muscle weakness (HP:0003701), distal muscle weakness (HP:0002460)	SGCB	SGCB	2	1	Jamie Zeegers
00072186	-	PubMed: Semplicini 2015, Journal: Semplicini 2015	No family history	-	-	-	Italian	-	-	-	-	LGMD2E;LGMDR4	severe limb-girdle muscular dystrophy (HP:0006785), cardiomyopathy (HP:0001638), proximal muscle weakness (HP:0003701), distal muscle weakness (HP:0002460)	SGCB	SGCB	1	1	Jamie Zeegers
00072187	-	PubMed: Semplicini 2015, Journal: Semplicini 2015	No family history	-	-	-	Denmark	-	-	-	-	LGMD2E;LGMDR4	severe limb-girdle muscular dystrophy (HP:0006785), cardiomyopathy (HP:0001638), proximal muscle weakness (HP:0003701), distal muscle weakness (HP:0002460)	SGCB	SGCB	1	1	Jamie Zeegers
00072190	-	PubMed: Semplicini 2015, Journal: Semplicini 2015	No family history	-	-	-	Italian	-	-	-	-	LGMD2E;LGMDR4	severe limb-girdle muscular dystrophy (HP:0006785), proximal muscle weakness (HP:0003701), distal muscle weakness (HP:0002460)	SGCB	SGCB	1	1	Jamie Zeegers
00072191	-	PubMed: Semplicini 2015, Journal: Semplicini 2015	No family history	-	-	-	Italian	-	-	-	-	LGMD2E;LGMDR4	proximal muscle weakness (HP:0003701)	SGCB	SGCB	1	1	Jamie Zeegers
00072194	-	PubMed: Semplicini 2015, Journal: Semplicini 2015	No family history	-	-	-	Denmark	-	-	-	-	LGMD2E;LGMDR4	severe or mild limb-girdle muscular dystrophy (HP:0006785), cardiomyopathy (HP:0001638), proximal muscle weakness (HP:0003701), distal muscle weakness (HP:0002460)	SGCB	SGCB	1	1	Jamie Zeegers
00072196	-	PubMed: Semplicini 2015, Journal: Semplicini 2015	No family history	-	-	-	French	-	-	-	-	LGMD2E;LGMDR4	severe limb-girdle muscular dystrophy (HP:0006785), cardiomyopathy (HP:0001638), proximal muscle weakness (HP:0003701), distal muscle weakness (HP:0002460)	SGCB	SGCB	2	1	Jamie Zeegers
00072197	-	PubMed: Semplicini 2015, Journal: Semplicini 2015	No family history	-	-	-	Greece	-	-	-	-	LGMD2E;LGMDR4	severe limb-girdle muscular dystrophy (HP:0006785), cardiomyopathy (HP:0001638), proximal muscle weakness (HP:0003701), distal muscle weakness (HP:0002460)	SGCB	SGCB	1	1	Jamie Zeegers
00072200	-	PubMed: Semplicini 2015, Journal: Semplicini 2015	No family history	-	-	-	Italian	-	-	-	-	LGMD2E;LGMDR4	proximal muscle weakness (HP:0003701)	SGCB	SGCB	1	1	Jamie Zeegers
00388003	Pat112	PubMed: Chakravorty 2020	-	M	?	India	-	-	-	-	-	LGMD2E;LGMDR4	HP:0003701 (proximal muscle weakness), HP:0030234 (highly elevated creatine kinase, 7646 U/L); difficulty getting up from ground and climbing stairs, calf hypertrophy; most-affected muscles hip and knee extensors, ankle dorsiflexors; no cardiac involvement; 12y-ambulant	SGCB	AMPD1, FKRP, GAA, SGCB, SGCD	5	1	Micaela Carcione

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