Disease #00141 (LGMD2 (dystrophy, muscular, limb-girdle, autosomal recessive, type 2 (LGMD-2)))

Official abbreviation	LGMD2
Name	dystrophy, muscular, limb-girdle, autosomal recessive, type 2 (LGMD-2)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	313
Phenotype entries for this disease	311
Associated with 9 genes	CAPN3, DYSF, FKRP, FKTN, SGCA, SGCB, SGCD, SGCG, TRAPPC11
Associated tissues	-
Disease features	-
Remarks	-
Date created	2013-06-10 21:06:19 +02:00 (CEST)
Date last edited	2021-12-11 13:56:28 +01:00 (CET)

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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313 entries on 4 pages. Showing entries 1 - 100.

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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
00001239	-	-	-	-	-	Netherlands	-	-	1	-	-	LGMD2	-	MICU1	MICU1	1	1	Johan den Dunnen
00056474	-	-	2-generation family, 1 affected, unaffected carrier parents	F	-	India	-	>12y	-	-	-	LGMD2	no prenatal findings; mild intellectual delay; epilepsy; no ophthalmologic findings; no cardiorespiratory findings; brain MRI no structural abnormality; max motor ability run	GMPPB	GMPPB	2	1	Johan den Dunnen
00056479	-	-	2-generation family, 1 affected, unaffected carrier parents	M	-	United Kingdom (Great Britain)	-	>6y	-	-	-	LGMD2	no prenatal findings; normal cognitive function; no ophthalmologic findings; no cardiorespiratory findings; CPK 3,000 max U/l; max motor ability run	GMPPB	GMPPB	2	1	Johan den Dunnen
00056480	-	-	2-generation family, 1 affected, unaffected carrier parents	M	-	Egypt	-	>18y	-	-	-	LGMD2	no prenatal findings; mild intellectual delay; epilepsy; cataracts; nystagmus; wandering atrial pacemaker; cardiomyopathy; respiratory insufficiency; brain MRI no structural abnormality; CPK 5,200 max U/l; max motor ability run	GMPPB	GMPPB	2	1	Johan den Dunnen
00065233	-	Balci-Hayta ESHG2016 P10.21	family, 2 affecteds	?	yes	Turkey	-	-	-	-	-	LGMD2	atypical phenotype, no classical features of desminopathy, neither cardiomyopathy nor typical histological changes; IF staining/WB analysis show preserved expression cytoskeletal network formation variant desmin in skeletal muscle fibres	DES	DES	1	2	Johan den Dunnen
00079575	-	PubMed: Crosbie 2000	-	-	-	-	-	-	-	-	-	LGMD2	-	SSPN	SSPN	2	1	Johan den Dunnen
00079577	-	PubMed: Crosbie 2000	-	-	-	-	-	-	-	-	-	LGMD2	-	SSPN	SSPN	1	1	Johan den Dunnen
00100410	23989969-Pat	PubMed: Cerevolo 2014, Journal: Cerevolo 2014	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	Italy	-	-	-	-	-	LGMD2	see paper; ..., dark urine 10d after episode of fever and sore throat treated with antibiotics; 8y-mild waddling gait, lumbar hyperlordosis, slightly positive Gower’s maneuver, CPK 8,000–12,000 U/L	SGCA, SGCB, SGCD, SGCG	SGCA	1	1	Johan den Dunnen
00133433	-	PubMed: Saillour 2008, PubMed: Trabelsi 2008	Pat17 in Trabelsi	M	?	(France)	-	-	-	-	-	LGMD2	-	SGCA	SGCA	2	1	Human Genetics Diagnostic Laboratory - Cochin Hosp J Chelly, F Leturcq
00133894	-	-	-	-	-	Netherlands	-	-	-	-	-	LGMD2	-	SGCG	SGCG	3	1	Ieke Ginjaar
00133923	-	PubMed: Saillour 2008, PubMed: Trabelsi 2008	Pat38 in Trabelsi	-	?	(France)	-	-	-	-	-	LGMD2	-	SGCG	SGCG	2	1	Human Genetics Diagnostic Laboratory - Cochin Hosp J Chelly, F Leturcq
00133924	-	PubMed: Saillour 2008, PubMed: Trabelsi 2008	Pat40 in Trabelsi	-	-	(France)	-	-	-	-	-	LGMD2	-	SGCG	SGCG	2	1	Human Genetics Diagnostic Laboratory - Cochin Hosp J Chelly, F Leturcq
00133925	-	PubMed: Saillour 2008, PubMed: Trabelsi 2008	Pat39 in Trabelsi	-	-	(France)	-	-	-	-	-	LGMD2	-	SGCG	SGCG	3	2	Human Genetics Diagnostic Laboratory - Cochin Hosp J Chelly, F Leturcq
00133926	-	PubMed: Saillour 2008	-	-	-	(France)	-	-	-	-	-	LGMD2	-	SGCG	SGCG	1	1	Human Genetics Diagnostic Laboratory - Cochin Hosp J Chelly, F Leturcq
00133927	-	PubMed: Trabelsi 2008	Pat44 in Trabelsi	-	?	(France)	-	-	-	-	-	LGMD2	-	SGCG	SGCG	2	1	Human Genetics Diagnostic Laboratory - Cochin Hosp J Chelly, F Leturcq
00134008	-	ESHG2010, Piluso P12.132	-	-	-	Italy	-	-	-	-	-	LGMD2	-	SGCG	SGCG	2	1	Johan den Dunnen
00146567	Fam8 / ..	PubMed: Brockington, OMIM:var0004	-	-	no	-	-	-	-	-	-	LGMD2	-	FKRP	FKRP	2	4	Johan den Dunnen
00146568	1, 3	PubMed: Walter	-	F;M	yes	Germany	-	-	-	-	-	LGMD2	-	FKRP	FKRP	4	1	Rolf Stucka
00146569	4, 5, ..	PubMed: Walter	8 cases families non-consanguineous parents	F;M	yes	Germany	-	-	-	-	-	LGMD2	-	FKRP	FKRP	4	8	Rolf Stucka
00146570	6, 13	PubMed: Walter	-	F	-	Germany	-	-	-	-	-	LGMD2	-	FKRP	FKRP	4	3	Rolf Stucka
00146572	2	PubMed: Walter	-	M	-	Croatia (Hrvatska)	-	-	-	-	-	LGMD2	-	FKRP	FKRP	4	3	Rolf Stucka
00146573	Fam6 / Fam16	PubMed: Brockington, PubMed: Mercuri, OMIM:var0004	2 non-consanguineous families	-	-	-	-	-	-	-	-	LGMD2	-	FKRP	FKRP	2	2	Johan den Dunnen
00146575	?	PubMed: Frosk	European origin, 19 affecteds 5 families	-	-	United States	Hutterite	-	-	-	-	LGMD2	4/14 cardiomyopathy, 9/17 calf hypertrophy; CPK 33x mean	FKRP	FKRP	4	19	Johan den Dunnen
00146577	?	Sveen WMS2005 L.P.3.06	28 patients	-	-	Denmark	-	-	-	-	-	LGMD2	-	FKRP	FKRP	2	28	Marianne Schwartz
00146579	Pat3	PubMed: Boito 2005	adopted	M	-	Italy	-	>42y	-	-	-	LGMD2	lost ambulation 42y	FKRP	FKRP	2	1	Johan den Dunnen
00146580	Pat8	PubMed: Boito 2005	7 affecteds, 5M [one asymptomatic], 2F	F;M	-	Italy	-	-	-	-	-	LGMD2	-	FKRP	FKRP	2	7	Johan den Dunnen
00146581	Pat18	PubMed: Boito 2005	-	F	-	Italy	-	>63y	-	-	-	LGMD2	-	FKRP	FKRP	2	1	Johan den Dunnen
00146582	Fam4; patient 3	PubMed: de Paula 2003; PubMed: Yamamoto 2008	-	F	-	Brazil	-	>24y	-	-	-	LGMD2	mild, able to walk; CPK 13x	FKRP	FKRP	2	2	Johan den Dunnen
00146583	?	-	-	F	-	Germany	-	>30y	-	-	-	LGMD2	CPK >2000	FKRP	FKRP	2	1	Lab Müller-Reible
00146597	Pat1	Reilich, Acta Myol. XXV:73	founder allele	M	-	Germany	Hutterite	>46y	-	-	-	LGMD2	EMG compatible with chronic myopathy, dilated cardiomyopathy; CPK 1500	FKRP	FKRP	2	1	Johan den Dunnen
00146598	Pat2	Reilich, Acta Myol. XXV:73	Hutterite founder allele	?	no	Germany	Hutterite	>45y	-	-	-	LGMD2	EMG compatible with chronic myopathy, ambulant 45y; CPK 361	FKRP	FKRP	2	1	Johan den Dunnen
00146600	Fam11: patient 8	PubMed: de Paula 2003; PubMed: Yamamoto 2008, OMIM:var0015	2 asymptomatic brothers; 19q13 linked	F	-	Brazil	-	33y	-	-	-	LGMD2	mild with hCK, remained ambulant; CPK 6x	FKRP	FKRP	2	1	Johan den Dunnen
00146603	?	-	-	M	-	Turkey	-	>2y	-	-	-	LGMD2	-	FKRP	FKRP	2	1	Lab Müller-Reible
00146604	?	-	-	M	-	United States	-	-	-	-	-	LGMD2	-	FKRP	FKRP	2	1	Akanchha Kesari
00146607	Fam1	PubMed: Brockington	-	-	no	-	-	-	-	-	-	LGMD2	-	FKRP	FKRP	2	1	Johan den Dunnen
00146608	?	-	-	-	-	Germany	-	-	-	-	-	LGMD2	-	FKRP	FKRP	2	1	Lab Müller-Reible
00146626	Pat5	PubMed: Mercuri 2006	-	-	-	-	-	-	-	-	-	LGMD2	-	FKRP	FKRP	2	1	Johan den Dunnen
00146627	?	PubMed: Driss, PubMed: Driss, OMIM:var0006	13 affecteds, originally used to map this locus (Driss 2000)	-	yes	Tunisia	-	-	-	-	-	LGMD2	-	FKRP	FKRP	4	13	Johan den Dunnen
00146633	Fam9	PubMed: Brockington, OMIM:var0004	-	-	-	-	-	-	-	-	-	LGMD2	-	FKRP	FKRP	2	1	Johan den Dunnen
00146641	Fam10; patient 7	PubMed: de Paula 2003; PubMed: Yamamoto 2008, OMIM:var0014	female sibling equally affected	F	-	-	-	>34y	-	-	-	LGMD2	hyperCKemia (CPK 22x), able to walk	FKRP	FKRP	2	2	Johan den Dunnen
00146642	Fam11	PubMed: Brockington	-	-	-	-	-	-	-	-	-	LGMD2	-	FKRP	FKRP	1	1	Johan den Dunnen
00146644	Pat2	PubMed: Boito 2005	-	M	-	Italy	-	>19y	-	-	-	LGMD2	-	FKRP	FKRP	1	1	Johan den Dunnen
00146645	Pat5	PubMed: Boito 2005	-	M	-	Italy	-	>30y	-	-	-	LGMD2	-	FKRP	FKRP	1	1	Johan den Dunnen
00146646	Pat6	PubMed: Boito 2005	-	M	-	Italy	-	>35y	-	-	-	LGMD2	lost ambulation 25y	FKRP	FKRP	1	1	Johan den Dunnen
00146647	Pat11	PubMed: Boito 2005	-	M	-	Italy	-	>53y	-	-	-	LGMD2	-	FKRP	FKRP	1	1	Johan den Dunnen
00146648	18832576-PatF6	-	-	M	-	United States	-	>10y	-	-	-	LGMD2	-	FKRP	FKRP	2	1	Akanchha Kesari
00146649	Fam8; patient 9	PubMed: de Paula 2003; PubMed: Yamamoto 2008	-	F	-	Brazil	-	>30y	-	-	-	LGMD2	mild; CPK 21x	FKRP	FKRP	2	1	Johan den Dunnen
00146653	Fam6; patient 5	PubMed: de Paula 2003; PubMed: Yamamoto 2008	-	F	-	Brazil	-	>15y	-	-	-	LGMD2	mild, difficulty climbing stairs; CPK 12x	FKRP	FKRP	2	2	Johan den Dunnen
00146654	?	PubMed: de Paula 2003	unrelated patients	-	-	Brazil	-	-	-	-	-	LGMD2	-	FKRP	FKRP	1	2	Johan den Dunnen
00146661	Fam2 / Fam4	PubMed: Brockington, PubMed: Mercuri, OMIM:var0004	-	-	-	-	-	-	-	-	-	LGMD2	-	FKRP	FKRP	2	2	Johan den Dunnen
00146667	?	PubMed: Boito 2005	-	F	-	Italy	-	>58y	-	-	-	LGMD2	-	FKRP	FKRP	2	1	Chiara Boito
00146669	Fam3, 5, 12, 17	PubMed: Brockington, PubMed: Mercuri, OMIM:var0004	-	-	-	-	-	-	-	-	-	LGMD2	-	FKRP	FKRP	1	4	Johan den Dunnen
00146672	?	-	-	F	-	Germany	-	-	-	-	-	LGMD2	-	FKRP	FKRP	3	1	Lab Müller-Reible
00146676	Fam7	PubMed: Brockington, OMIM:var0004	-	-	-	-	-	-	-	-	-	LGMD2	-	FKRP	FKRP	2	1	Johan den Dunnen
00146677	Fam10/Fam13	PubMed: Brockington, PubMed: Mercuri, OMIM:var0004	-	-	-	-	-	-	-	-	-	LGMD2	-	FKRP	FKRP	2	2	Johan den Dunnen
00146682	15	PubMed: Walter	-	F	-	Germany	-	-	-	-	-	LGMD2	-	FKRP	FKRP	3	1	Rolf Stucka
00146683	14	PubMed: Walter	-	M	-	Germany	-	-	-	-	-	LGMD2	-	FKRP	FKRP	3	1	Rolf Stucka
00146684	Fam7 (pat9)	PubMed: Mercuri	-	-	-	-	-	-	-	-	-	LGMD2	-	FKRP	FKRP	2	1	Johan den Dunnen
00146685	17	PubMed: Walter	-	F	-	Germany	-	-	-	-	-	LGMD2	-	FKRP	FKRP	3	1	Rolf Stucka
00146686	18	PubMed: Walter	-	M	-	Germany	-	-	-	-	-	LGMD2	-	FKRP	FKRP	3	1	Rolf Stucka
00146687	19	PubMed: Walter	-	F	-	Germany	-	-	-	-	-	LGMD2	-	FKRP	FKRP	3	1	Rolf Stucka
00146688	20	PubMed: Walter	-	F	-	Germany	-	-	-	-	-	LGMD2	-	FKRP	FKRP	3	1	Rolf Stucka
00146689	Fam6-Pat7 / ..	PubMed: Mercuri	-	-	-	-	-	-	-	-	-	LGMD2	-	FKRP	FKRP	2	1	Johan den Dunnen
00146690	Fam9 ..	PubMed: Mercuri	-	-	-	-	-	-	-	-	-	LGMD2	-	FKRP	FKRP	2	1	Johan den Dunnen
00146691	Fam10 ..	PubMed: Mercuri, PubMed: Quijano-Roy 2006	sibs	F;M	-	France	-	-	-	-	-	LGMD2	lost ambulation 12/17y	FKRP	FKRP	2	2	Johan den Dunnen
00146692	Fam12 P17	PubMed: Mercuri, PubMed: Torelli 2005	-	-	-	-	-	-	-	-	-	LGMD2	-	FKRP	FKRP	2	1	Johan den Dunnen
00146693	Fam14 P19	PubMed: Mercuri, PubMed: Torelli 2005	-	-	-	-	-	-	-	-	-	LGMD2	-	FKRP	FKRP	2	1	Johan den Dunnen
00146697	?	-	-	-	-	Germany	-	-	-	-	-	LGMD2	-	FKRP	FKRP	2	1	Lab Müller-Reible
00146698	?	-	-	-	-	Germany	-	-	-	-	-	LGMD2	-	FKRP	FKRP	2	1	Lab Müller-Reible
00146700	NCL-08	PubMed: Frosk, {DB: Winnipeg}	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	LGMD2	-	FKRP	FKRP	2	1	Johan den Dunnen
00146701	NCL-10	PubMed: Frosk, {DB: Winnipeg}	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	LGMD2	-	FKRP	FKRP	2	1	Johan den Dunnen
00146702	C17.553; Fam12; pat. 10	PubMed: Frosk, PubMed: de Paula 2003, {DB: Winnipeg}; PubMed: Yamamoto 2008	-	M	no	Brazil	-	>51y	-	-	-	LGMD2	mild, able to walk; CPK x6	FKRP	FKRP	2	1	Johan den Dunnen
00146703	G-04	PubMed: Frosk, {DB: Winnipeg}	-	-	-	Canada	Germany	-	-	-	-	LGMD2	-	FKRP	FKRP	2	1	Johan den Dunnen
00146704	?	-	-	-	-	Germany	-	-	-	-	-	LGMD2	-	FKRP	FKRP	2	1	Lab Müller-Reible
00146706	?	-	-	-	-	Germany	-	-	-	-	-	LGMD2	-	FKRP	FKRP	2	1	Lab Müller-Reible
00146707	?	-	-	-	-	Germany	-	-	-	-	-	LGMD2	-	FKRP	FKRP	2	1	Lab Müller-Reible
00146710	?	-	-	M	-	Germany	-	>7y	-	-	-	LGMD2	-	FKRP	FKRP	2	1	Lab Müller-Reible
00146712	Pat8	PubMed: Torelli 2005	-	-	-	-	-	-	-	-	-	LGMD2	-	FKRP	FKRP	2	1	Johan den Dunnen
00146713	?	-	-	M	-	United States	-	-	-	-	-	LGMD2	-	FKRP	FKRP	2	1	Akanchha Kesari
00146714	?	PubMed: Kesari 2008	-	F	-	United States	-	>25y	-	-	-	LGMD2	-	FKRP	FKRP	2	1	Akanchha Kesari
00146716	?	-	-	F	-	United States	-	-	-	-	-	LGMD2	-	FKRP	FKRP	2	1	Akanchha Kesari
00146717	Pat7	PubMed: Boito 2005	-	M	-	Italy	-	>42y	-	-	-	LGMD2	-	FKRP	FKRP	1	1	Johan den Dunnen
00146718	Pat4	PubMed: Boito 2005	-	F	-	Italy	-	>26y	-	-	-	LGMD2	lost ambulation 24y	FKRP	FKRP	2	1	Johan den Dunnen
00146719	Pat16-16 / 19	PubMed: Boito 2005	sisters	F	-	Italy	-	-	-	-	-	LGMD2	one asymptomatic	FKRP	FKRP	2	1	Johan den Dunnen
00146720	Pat20	PubMed: Boito 2005	-	F	-	Italy	-	>69y	-	-	-	LGMD2	lost ambulation 69y	FKRP	FKRP	2	1	Johan den Dunnen
00146724	Fam7; patient 13	PubMed: de Paula 2003; PubMed: Yamamoto 2008	-	F	no	Brazil	-	>39y	-	-	-	LGMD2	mild, able to walk; CPK 7x	FKRP	FKRP	2	2	Johan den Dunnen
00146727	?	-	-	M	-	Germany	-	>41y	-	-	-	LGMD2	-	FKRP	FKRP	2	1	Lab Müller-Reible
00146731	?	-	-	F	-	Germany	-	>16y	-	-	-	LGMD2	-	FKRP	FKRP	2	1	Lab Müller-Reible
00146736	?	-	-	F	-	Hungary	-	>18y	-	-	-	LGMD2	-	FKRP	FKRP	2	1	Lab Müller-Reible
00146737	?	-	-	M	-	United States	-	>9y	-	-	-	LGMD2	-	FKRP	FKRP	2	1	Tom Winder
00146753	?	-	-	F	-	Germany	-	>15y	-	-	-	LGMD2	-	FKRP	FKRP	1	1	Lab Müller-Reible
00146754	16	PubMed: Walter	-	F	-	Germany	-	-	-	-	-	LGMD2	-	FKRP	FKRP	3	1	Rolf Stucka
00146755	Pat1	PubMed: Boito 2005	-	M	-	Italy	-	16y	-	-	-	LGMD2	lost ambulation 13y	FKRP	FKRP	2	1	Johan den Dunnen
00146756	?	de Paula 2003 EJHG	-	-	-	-	-	-	-	-	-	LGMD2	-	FKRP	FKRP	1	1	Johan den Dunnen
00146758	14663034h-I	PubMed: Guglieri 2008	-	M	-	Italy	-	>75y	-	-	-	LGMD2	Moderate; hypertrophy, left ventricular hypocinesia; respiratory function restrictive; CPK 37x	FKRP	FKRP	2	1	Johan den Dunnen
00146759	14663034h-II	PubMed: Guglieri 2008	-	F	-	Italy	-	>46y	-	-	-	LGMD2	Moderate; CPK 45x	FKRP	FKRP	2	1	Johan den Dunnen
00146760	14663034h-III	PubMed: Guglieri 2008	-	M	-	Italy	-	>69y	-	-	-	LGMD2	Slow; cardiac function ; respiratory function normal; CPK 21x	FKRP	FKRP	2	1	Johan den Dunnen
00146761	14663034h-IV	PubMed: Guglieri 2008	-	M	-	Italy	-	>40y	-	-	-	LGMD2	Slow; cardiac function ; respiratory function normal; CPK 35x	FKRP	FKRP	2	1	Johan den Dunnen
00146762	14663034h-V	PubMed: Guglieri 2008	-	M	-	Italy	-	>11y	-	-	-	LGMD2	Slow; cardiac function ; respiratory function normal; CPK 25x	FKRP	FKRP	2	1	Johan den Dunnen
00146763	14663034h-VI	PubMed: Guglieri 2008	-	M	-	Italy	-	>10y	-	-	-	LGMD2	cardiac function ; respiratory function normal; CPK 5x	FKRP	FKRP	2	1	Johan den Dunnen

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Global Variome shared LOVD

ARG1 (arginase, liver)