Disease #05126 (LGMD (dystrophy, muscular, limb-girdle (LGMD)))

Official abbreviation	LGMD
Name	dystrophy, muscular, limb-girdle (LGMD)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	7463
Phenotype entries for this disease	3619
Associated with 2 genes	TCAP, TRAPPC11
Associated tissues	-
Disease features	-
Remarks	-
Date created	2016-01-26 06:05:36 +01:00 (CET)
Date last edited	N/A

Individuals

Legend

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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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combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
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\|	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
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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'

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7463 entries on 75 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
00057985	-	-	-	M	-	Canada	French Canadian	-	-	-	-	LGMD	adult-onset LGMD; 61y wheelchair bound	TTN	TTN	1	1	Tom Winder
00058411	-	PubMed: Udd 2005, PubMed: Evila 2014	-	?	no	Finland	-	-	-	-	-	LGMD	-	TTN	TTN	2	1	Claire Chauveau
00058415	-	PubMed: Evil‰ 2014	-	F	no	Finland	-	-	-	-	-	LGMD	-	TTN	TTN	2	1	Claire Chauveau
00058430	-	PubMed: Udd 2005, PubMed: Evila 2014	-	?	no	Finland	-	-	-	-	-	LGMD	childhood-onsset	TTN	TTN	2	1	Johan den Dunnen
00065234	-	Fichna ESHG2016 P10.20	3-generation family, 2 affecteds (2M)	M	no	Poland	-	-	-	-	-	LGMD	-	ANO5, BAG3	ANO5, BAG3	3	2	Johan den Dunnen
00073181	25868377 NP13	PubMed: Shin 2015, Journal: Shin 2015	-	F	-	(Korea, South (Republic))	-	>38y	-	-	-	LGMD	no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236)	DYSF	DYSF	2	1	Pieter Klap
00073182	25868377 NP14	PubMed: Shin 2015, Journal: Shin 2015	-	F	-	(Korea, South (Republic))	-	>45y	-	-	-	LGMD	no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236)	DYSF	DYSF	2	1	Pieter Klap
00073183	25868377 NP15	PubMed: Shin 2015, Journal: Shin 2015	-	F	-	(Korea, South (Republic))	-	>33y	-	-	-	LGMD	myositis (HP:0100614), Elevated serum creatine phosphokinase (HP:0003236)	DYSF	DYSF	2	1	Pieter Klap
00073196	25868377 NP22	PubMed: Shin 2015, Journal: Shin 2015	-	F	-	(Korea, South (Republic))	-	>34y	-	-	-	LGMD	no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236)	DYSF	DYSF	2	1	Pieter Klap
00073198	25868377 NP24	PubMed: Shin 2015, Journal: Shin 2015	-	F	-	(Korea, South (Republic))	-	>40y	-	-	-	LGMD	no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236)	DYSF	DYSF	2	1	Pieter Klap
00073199	25868377 NP25	PubMed: Shin 2015, Journal: Shin 2015	-	F	-	(Korea, South (Republic))	-	>26y	-	-	-	LGMD	no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236)	DYSF	DYSF	3	1	Pieter Klap
00073201	25868377 NP27	PubMed: Shin 2015, Journal: Shin 2015	-	F	-	(Korea, South (Republic))	-	>37y	-	-	-	LGMD	no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236)	DYSF	DYSF	1	1	Pieter Klap
00073203	25868377 NP29	PubMed: Shin 2015, Journal: Shin 2015	-	M	-	(Korea, South (Republic))	-	>28y	-	-	-	LGMD	no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236)	DYSF	DYSF	2	1	Pieter Klap
00073297	23254335 pt.3	PubMed: Zhao 2013, Journal: Zhao 2013	-	M	-	China	-	>27y	-	-	-	LGMD	Elevated serum creatine phosphokinase (HP:0003236), no myositis (-HP:0100614), Reduced muscle fiber dysferlin (HP:0030115)	DYSF	DYSF	1	1	Pieter Klap
00073299	23254335 pt.5	PubMed: Zhao 2013, Journal: Zhao 2013	-	M	-	China	-	>19y	-	-	-	LGMD	Elevated serum creatine phosphokinase (HP:0003236), myositis (HP:0100614), Reduced muscle fiber dysferlin (HP:0030115)	DYSF	DYSF	1	1	Pieter Klap
00073300	23254335 pt.6	PubMed: Zhao 2013, Journal: Zhao 2013	-	M	-	China	-	>15y	-	-	-	LGMD	Elevated serum creatine phosphokinase (HP:0003236), no myositis (-HP:0100614), Reduced muscle fiber dysferlin (HP:0030115)	DYSF	DYSF	1	1	Pieter Klap
00073658	25574751 pt.1	PubMed: Szymanska 2014, Journal: Szymanska 2014	-	F	-	(Poland)	-	>19y	-	-	-	LGMD	Seizures (HP:0001250), Elevated hepatic transaminases (HP:0002910), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114),	DYSF	DYSF	2	1	Pieter Klap
00073659	25591676 F1-297-1-2	PubMed: Xi 2014, Journal: Xi 2014	-	F	-	China	-	>26y	-	-	-	LGMD	no scapular winging (-HP:0003691), unable to stand on tiptoes (HP:0004302), unable to rise from floor (HP:0004302), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114),	DYSF	DYSF	1	1	Pieter Klap
00073660	25591676 F1-298-1-2	PubMed: Xi 2014, Journal: Xi 2014	-	F	yes	China	-	>39y	-	-	-	LGMD	no scapular winging (-HP:0003691), unable to stand on tiptoes (HP:0004302), unable to get up from a chair (HP:0004302), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114),	DYSF	DYSF	1	1	Pieter Klap
00078749	-	Bolduc ASHG2011 A114	-	-	-	-	-	-	-	-	-	LGMD	IHC ANO5 striated signal preserved	ANO5	ANO5	1	1	Johan den Dunnen
00078750	-	PubMed: Sarkozy 2012	2-generation family, 2 affected brothers	M	-	United Kingdom (Great Britain)	-	>61y	-	-	-	LGMD	able walk on toes; difficulty walk on heels; muscle atrophy medial gastrocnemius; no scapular winging; contractures (wrist, TA), sleep apnoea, diabetes; raised CPK (HP:0003236) 3500; walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078751	-	-	2-generation family, 2 affected brothers	M	-	United Kingdom (Great Britain)	-	68y	-	-	-	LGMD	no scapular winging; diabetes: deceased (cancer, bladder); raised CPK (HP:0003236) 4500; walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078752	-	PubMed: Sarkozy 2012	-	M	-	United Kingdom (Great Britain)	-	>50y	-	-	-	LGMD	unable walk on toes; difficulty walk on heels; muscle atrophy quadriceps, hamstrings, gastrocnemius; no scapular winging; myoglobinuria; raised CPK (HP:0003236) 4000-8000; walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078753	-	PubMed: Hicks 2011	-	M	-	United Kingdom (Great Britain)	-	>45y	-	-	-	LGMD	difficulty walk on toes; difficulty walk on heels; muscle atrophy biceps, brachioradialis, quadriceps, hamstrings; scapular winging; raised CPK (HP:0003236) 4000-8000; walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078754	-	PubMed: Hicks 2011	-	M	-	United Kingdom (Great Britain)	-	>68y	-	-	-	LGMD	unable walk on toes; difficulty walk on heels; muscle atrophy Deltoids, biceps, triceps, quadriceps; no scapular winging; knee hyperextension, foot drop, IHD; raised CPK (HP:0003236) 3000; progressive inability to walk (HP:0002505) restricted	ANO5	ANO5	2	1	Johan den Dunnen
00078755	-	PubMed: Sarkozy 2012	2-generation family, 2 affected brothers	M	-	United Kingdom (Great Britain)	-	>37y	-	-	-	LGMD	able walk on toes; difficulty walk on heels; muscle atrophy medial gastrocnemius (assymetry); scapular winging; knee hyperextension, contractures (wrist, fingers); raised CPK (HP:0003236) 5000; progressive inability to walk (HP:0002505) restricted	ANO5	ANO5	2	1	Johan den Dunnen
00078756	-	PubMed: Sarkozy 2012	2-generation family, 2 affected brothers	M	-	United Kingdom (Great Britain)	-	>43y	-	-	-	LGMD	able walk on toes; unable walk on heels; muscle atrophy brachioradialis, hamstrings, medial gastrocnemius; no scapular winging; knee hyperextension; raised CPK (HP:0003236) 5300; walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078757	-	PubMed: Hicks 2011	-	M	-	United Kingdom (Great Britain)	-	>61y	-	-	-	LGMD	able walk on toes; able walk on heels; muscle atrophy biceps, brachioradialis, pectoralis, quadriceps, hamstrings (assymetry); scapular winging (assymetry); knee hyperextension, calf hypertrophy, contractures (wrist, fingers); raised CPK (HP:0003236) 2400-3400; walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078758	-	PubMed: Sarkozy 2012	2-generation family, 2 affected sisters	F	-	United Kingdom (Great Britain)	-	>54y	-	-	-	LGMD	unable walk on toes; unable walk on heels; muscle atrophy quadriceps, medial gastrocnemius; scapular winging; knee hyperextension; raised CPK (HP:0003236) 1800-10 000; walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078759	-	PubMed: Hicks 2011	2-generation family, 2 affected sisters	F	-	United Kingdom (Great Britain)	-	>57y	-	-	-	LGMD	unable walk on toes; able walk on heels; muscle atrophy medial gastrocnemius; no scapular winging; contractures (Achilles tendons); raised CPK (HP:0003236) 3900; walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078760	-	PubMed: Hicks 2011	-	M	-	United Kingdom (Great Britain)	-	>56y	-	-	-	LGMD	unable walk on toes; able walk on heels; muscle atrophy biceps focally, glutei, quadriceps, hamstrings, medial gastrocnemius (assymetry); no scapular winging; knee hyperextension; raised CPK (HP:0003236) 2500; walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078761	-	PubMed: Sarkozy 2012	-	M	-	United Kingdom (Great Britain)	-	>47y	-	-	-	LGMD	unable walk on toes; difficulty walk on heels; muscle atrophy quadriceps, calves (assymetry); no scapular winging; raised CPK (HP:0003236) 4500; walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078762	-	PubMed: Hicks 2011	-	M	-	United Kingdom (Great Britain)	-	>55y	-	-	-	LGMD	able walk on toes; difficulty walk on heels; muscle atrophy biceps focally, quadriceps, hamstrings, medial gastrocnemius (assymetry); scapular winging; knee hyperextension; raised CPK (HP:0003236) 4100; walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078763	-	PubMed: Sarkozy 2012	-	M	-	United Kingdom (Great Britain)	-	>40y	-	-	-	LGMD	unable walk on toes; able walk on heels; muscle atrophy quadriceps and calves (assymetry); no scapular winging; raised CPK (HP:0003236) 3000-7000; walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078764	-	PubMed: Hicks 2011	-	M	-	United Kingdom (Great Britain)	-	>58y	-	-	-	LGMD	unable walk on toes; unable walk on heels; muscle atrophy biceps focally, thighs; no scapular winging; raised CPK (HP:0003236) 4400; walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078765	-	PubMed: Hicks 2011	2-generation family, 2 affected brothers	M	-	Germany	-	>49y	-	-	-	LGMD	unable walk on toes; unable walk on heels; muscle atrophy severe wasting LL muscles; scapular winging (assymetry); raised CPK (HP:0003236) 2900-3500; progressive inability to walk (HP:0002505) severely restricted	ANO5	ANO5	2	1	Johan den Dunnen
00078766	-	PubMed: Hicks 2011	2-generation family, 2 affected brothers	M	-	Germany	-	>48y	-	-	-	LGMD	able walk on toes; difficulty walk on heels; muscle atrophy quadriceps; no scapular winging; calf hypertrophy, myoglobinuria; raised CPK (HP:0003236) 800-4700; walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078767	-	PubMed: Hicks 2011	-	M	-	Germany	-	>35y	-	-	-	LGMD	difficulty walk on toes; difficulty walk on heels; muscle atrophy quadriceps, calves; no scapular winging; onset late teens; raised CPK (HP:0003236) 5000; walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078768	-	PubMed: Hicks 2011	2-generation family, 2 affected brothers	M	-	Germany	-	>58y	-	-	-	LGMD	able walk on toes; difficulty walk on heels; muscle atrophy medial gastrocnemius (assymetry); no scapular winging; raised CPK (HP:0003236) 300-2000; walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078769	-	PubMed: Hicks 2011	2-generation family, 2 affected brothers	M	-	Germany	-	>56y	-	-	-	LGMD	unable walk on toes; unable walk on heels; muscle atrophy quadriceps, calves; scapular winging (assymetry); myoglobinuria; raised CPK (HP:0003236) 1700-3000; progressive inability to walk (HP:0002505) restricted	ANO5	ANO5	2	1	Johan den Dunnen
00078780	-	-	-	-	-	United States	-	-	-	-	-	LGMD	-	ANO5	ANO5	2	1	Tom Winder
00078791	-	Bolduc ASHG2011 A114	-	-	-	-	-	-	-	-	-	LGMD	IHC ANO5 striated signal preserved	ANO5	ANO5	3	1	Johan den Dunnen
00078864	-	PubMed: Magrib 2012	3-generation family, 1 affected, unaffecteds carrier parents	M	no	Italy	-	-	-	-	-	LGMD	lower limbs affected; atrophy quadriceps, posterior compartment; muscle weakness quadriceps/biceps femorii; no calf pseudo hypertrophy, no cramps, no myalgia, no cardiac involvement, no respiratory involvement; EMG myopatic; raised CPK (HP:0003236) 6-11x; >47y walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078865	-	PubMed: Magrib 2012	3-generation family, 2 affecteds, unaffecteds carrier parents	M	no	Italy	-	-	-	-	-	LGMD	distal involvement, atrophy harmstrings/quadriceps, muscle weakness quadriceps/biceps femorii; calf pseudo hypertrophy, cramps, myalgia, no myoglobinuria, no cardiac involvement, no respiratory involvement; EMG myopatic; raised CPK (HP:0003236) 5-32x; >51y walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078866	-	PubMed: Magrib 2012	3-generation family, 2 affecteds, unaffecteds carrier parents	M	no	Italy	-	-	-	-	-	LGMD	almost asymptomatic, lower lower limbs, atrophy harmstrings/quadriceps, muscle weakness biceps femorii; calf pseudo hypertrophy, no cramps, no myalgia, myoglobinuria, no cardiac involvement, no respiratory involvement; EMG myopatic; raised CPK (HP:0003236) 15-31x; >43y walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078867	-	PubMed: Magrib 2012	3-generation family, 2 affecteds, unaffecteds carrier parents and sibs	M	no	Italy	-	-	-	-	-	LGMD	lower limbs affected, atrophy quadriceps, muscle weakness quadriceps; calf pseudo hypertrophy, cramps, myalgia, no cardiac involvement, no respiratory involvement; EMG myopatic; raised CPK (HP:0003236) 16x; >45y walking (-HP:0006957)	ANO5	ANO5	2	2	Johan den Dunnen
00078869	-	PubMed: Magrib 2012	5-generation family, 1 affected, unaffected carrier parents and sibs	M	yes	Italy	-	-	-	-	-	LGMD	four limbs affected, atrophy asymmetric quadriceps, muscle weakness quadriceps, no calf pseudo hypertrophy, cramps, myalgia, myoglobinuria, no cardiac involvement, no respiratory involvement; EMG myopathic; raised CPK (HP:0003236) 2x; >50y walking (-HP:0006957)	ANO5	ANO5	2	2	Johan den Dunnen
00078871	-	-	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	ANO5	ANO5	1	1	Johan den Dunnen
00078874	-	-	-	M	-	Canada	-	-	-	-	-	LGMD	-	ANO5	ANO5	2	1	Tom Winder
00078875	-	-	-	M	-	Canada	-	-	-	-	-	LGMD	-	ANO5	ANO5	2	1	Tom Winder
00078876	Pat9	PubMed: Punetha 2016	-	M	yes	-	-	-	-	-	-	LGMD	muscle biopsy shows evidence of end stage muscle features; raised CPK (HP:0003236) moderately elevated	ANO5	ANO5	1	1	Jaya Punetha
00078877	Pat16	PubMed: Punetha 2016	-	F	?	-	-	-	-	-	-	LGMD	muscle biopsy shows mild dystrophic process with 30% internal nuclei; raised CPK (HP:0003236) highly elevated	ANO5	ANO5	1	1	Jaya Punetha
00102197	09829280-Case1	PubMed: Naom 1998	sister of 9829280.case2	F	no	United Kingdom (Great Britain)	white	>7y	-	-	-	LGMD	gait mild valgus posture both feet, reflexes sluggish, no muscle pseudohypertrophy/wasting; muscle biopsy overtly dystrophic; 7y-Gowersí manoeuvre; CPK: 4025-4621 UI/L; s7m, w23m	LAMA2	LAMA2	2	2	Johan den Dunnen
00102340	09829280-Case2	PubMed: Naom 1998	brother of 9829280.case1	M	no	United Kingdom (Great Britain)	white	>11y	-	-	-	LGMD	23m-waddling gait, difficulty pulling to stand, no calf pseudohypertrophy/joint tightness, reflexes present but difficult to elicit; EMG myopathic features; 2y-muscle biopsy unequivocal dystrophic picture; 4y-Gowersí manoeuvre, mild iliotibial band tightness, no tendo-Achilles contractures; 11y-mild contractures tendo-Achilles/long finger flexors; CPK: 4400 UI/L; h4m, s7m, w18m	LAMA2	LAMA2	2	2	Johan den Dunnen
00102454	20477750-PatIV12	-	5-generation family, branches with CAPN3 and LAMA2 variants	F	yes	Tunisia	-	>29y	-	-	-	LGMD	dystrophy, muscular, limb-girdle; calve hypertrophy; functional grade 3; CPK: 689; wheelchair bound >29y	CAPN3, LAMA2	CAPN3	1	1	Nacim Louhichi
00102519	21953594-Pat1	PubMed: Gavassini 2011	-	M	-	-	-	-	-	-	-	LGMD	CPK: 655; IQ low normal; walk	LAMA2	LAMA2	2	1	Johan den Dunnen
00102520	21953594-Pat2	PubMed: Gavassini 2011	2-generation family, sib of 21953594-Pat3	M	-	-	-	-	-	-	-	LGMD	CPK: 309; no mental retardation; walk	LAMA2	LAMA2	2	1	Johan den Dunnen
00102521	21953594-Pat3	PubMed: Gavassini 2011	2-generation family, sib of 21953594-Pat2	F	-	-	-	-	-	-	-	LGMD	CPK: 405; walk	LAMA2	LAMA2	2	1	Johan den Dunnen
00102522	21953594-Pat4	PubMed: Gavassini 2011	-	M	-	-	-	-	-	-	-	LGMD	CPK: 1053; no mental retardation; walk	LAMA2	LAMA2	2	1	Johan den Dunnen
00102523	21953594-Pat5	PubMed: Gavassini 2011	-	M	-	-	-	-	-	-	-	LGMD	CPK: 859; walk	LAMA2	LAMA2	2	1	Johan den Dunnen
00102538	20477750-PatIV13	-	5-generation family, branches with CAPN3 and LAMA2 variants	M	yes	Tunisia	-	>31y	-	-	-	LGMD	dystrophy, muscular, limb-girdle; calve hypertrophy; functional grade 7; CPK: 1232; wheelchair bound 29y	CAPN3, LAMA2	CAPN3	1	1	Nacim Louhichi
00102539	20477750-PatIV14	-	5-generation family, branches with CAPN3 and LAMA2 variants	M	yes	Tunisia	-	>38y	-	-	-	LGMD	dystrophy, muscular, limb-girdle; calve hypertrophy; functional grade 7; CPK: 337; wheelchair bound 33y	CAPN3, LAMA2	CAPN3	1	1	Nacim Louhichi
00102540	20477750-PatIV15	-	5-generation family, branches with CAPN3 and LAMA2 variants	M	yes	Tunisia	-	>27y	-	-	-	LGMD	dystrophy, muscular, limb-girdle; no calve hypertrophy; functional grade 9; CPK: 452; wheelchair bound 24y	CAPN3, LAMA2	CAPN3	1	1	Nacim Louhichi
00102541	20477750-PatV4	ESHG2010 Hadj Salem P12.119, PubMed: HadjSamen 2011	5-generation family, branches with CAPN3 and LAMA2 variants	M	yes	Tunisia	-	>22y	-	-	-	LGMD	calve hypertrophy; functional grade 3; CPK: 4062; wheelchair bound >22y	LAMA2	LAMA2	1	1	Nacim Louhichi
00102542	20477750-PatV5	-	5-generation family, branches with CAPN3 and LAMA2 variants	F	yes	Tunisia	-	>20y	-	-	-	LGMD	dystrophy, muscular, limb-girdle; calve hypertrophy; functional grade 3; CPK: 2522; wheelchair bound >20y	CAPN3, LAMA2	CAPN3	1	1	Nacim Louhichi
00102543	20477750-PatV6	ESHG2010 Hadj Salem P12.119, PubMed: HadjSamen 2011	5-generation family, branches with CAPN3 and LAMA2 variants	M	yes	Tunisia	-	>15y	-	-	-	LGMD	calve hypertrophy; functional grade 4; CPK: 5675; wheelchair bound >15y	CAPN3, LAMA2	CAPN3, LAMA2	2	1	Nacim Louhichi
00103246	1409	PubMed: Reddy 2017	-	F	-	United States	white	>02y	-	-	-	LGMD	Elbow, knee and neck contractures	-	LAMA2	2	1	Jorge Oliveira
00103268	Pat	Chan 2014	-	F	no	-	-	>13y	-	-	-	LGMD	Elevated serum creatine phosphokinase (HP:0003236), deep cerebral white matter hyperdensities (HP:0030892), muscular dystrophy (HP:0003560), kyphosis (HP:0002808), limb-girdle muscle weakness (HP:0003325), demyelinating peripheral neuropathy (HP:0007108), Elbow flexion contracture (HP:0002987)	LAMA2	LAMA2	3	1	Jorge Oliveira
00103635	25663498-Pat6	PubMed: Løkken 2015	-	M	-	Denmark	-	>69y	-	-	-	LGMD	elevated serum creatine phosphokinase (HP:0003236), hyperintensity of cerebral white matter on MRI (HP:0030890), Gowers sign (HP:0003391), myopathic features in muscle biopsy	LAMA2	LAMA2	1	1	Jorge Oliveira
00103636	25663498-Pat7	PubMed: Løkken 2015	-	F	-	Denmark	-	>32y	-	-	-	LGMD	elevated serum creatine phosphokinase (HP:0003236), hyperintensity of cerebral white matter on MRI (HP:0030890), joint contracture (HP:0001371), Gowers sign (HP:0003391)	LAMA2	LAMA2	2	1	Jorge Oliveira
00103637	25663498-Pat8	PubMed: Løkken 2015	-	M	-	Denmark	-	>54y	-	-	-	LGMD	elevated serum creatine phosphokinase (HP:0003236), hyperintensity of cerebral white matter on MRI (HP:0030890), muscular dystrophy (HP:0003560), Gowers sign (HP:0003391)	LAMA2	LAMA2	2	1	Jorge Oliveira
00103974	28403181-Pat69	PubMed: Yu	-	M	-	(China)	-	>43y	-	-	-	LGMD	Scapular winging (HP:0003691), distal muscle weakness (HP:0002460), skeletal muscle hypertrophy (HP:0003712)	-	LAMA2	1	1	Jorge Oliveira
00103975	28403181-Pat92	PubMed: Yu	-	M	-	-	-	>07y	-	-	-	LGMD	elevated serum creatine phosphokinase (HP:0003236), joint contracture (HP:0001371), distal muscle weakness (HP:0002460), neck flexor weakness (HP:0003722)	LAMA2	LAMA2	1	1	Jorge Oliveira
00108196	-	PubMed: McNally, OMIM:var0003	-	F	-	Italy	-	-	-	-	-	LGMD	-	CAV3	CAV3	2	1	Johan den Dunnen
00108204	-	PubMed: Lo 2008, Lo WMS2005 L.P.1.02	-	F	-	Australia	white	-	-	-	-	LGMD	-	CAV3	CAV3	1	1	Maria Chiotis
00108211	-	PubMed: Sugie 2005	grandfather from family	M	-	Japan	-	>62y	-	-	-	LGMD	CPK 1578	CAV3	CAV3	1	1	Johan den Dunnen
00108212	-	PubMed: Herrmann, OMIM:var0005	-	F	-	Germany	-	-	-	-	-	LGMD	phenotype with myalgia, muscle cramps; CPK 800	CAV3	CAV3	1	1	Johan den Dunnen
00108218	-	PubMed: Fulizio, OMIM:var0005	-	M	-	Italy	-	-	-	-	-	LGMD	CPK 600	CAV3	CAV3	1	1	Johan den Dunnen
00108219	-	-	2 affected brothers	-	-	United Kingdom (Great Britain)	-	-	-	-	-	LGMD	-	CAV3	CAV3	2	2	Ottie O'Brien
00108226	-	PubMed: de Paula, OMIM:var0003	-	-	-	Brazil	-	-	-	-	-	LGMD	-	CAV3	CAV3	1	2	Johan den Dunnen
00108231	-	PubMed: de Paula	-	-	-	Brazil	-	-	-	-	-	LGMD	-	CAV3	CAV3	1	1	Johan den Dunnen
00108234	-	PubMed: Minetti 1998, PubMed: Smythe, OMIM:var0002	3-generation family, 4 affecteds (2F, 2M); change studied by Smythe 2003	-	-	Italy	-	-	-	-	-	LGMD	limb-girdle muscular dystrophy, type 1C	CAV3	CAV3	1	4	Johan den Dunnen
00108235	-	PubMed: Matsuda	-	?	-	Japan	-	-	-	-	-	LGMD	-	CAV3	CAV3	1	1	Johan den Dunnen
00108238	-	PubMed: McNally, OMIM:var0004	unaffected mother and 2 siblings carrying same change	F	-	-	-	-	-	-	-	LGMD	-	CAV3	CAV3	1	4	Johan den Dunnen
00108240	-	-	-	-	-	Netherlands	-	-	-	-	-	LGMD	-	CAV3	CAV3	1	1	Ieke Ginjaar
00108244	-	-	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	LGMD	-	CAV3	CAV3	1	1	Ottie O'Brien
00108245	-	PubMed: Cagliani, OMIM:var0011	8 affecteds large family	?	-	Italy	-	-	-	-	-	LGMD	intrafamilial phenotypic heterogeneity, hCK/limb-girdle muscular dystrophy/RMD	CAV3	CAV3	1	8	Johan den Dunnen
00108247	-	Herrmann WMS2004, PubMed: Aboumousa 2008	-	M	-	United Kingdom (Great Britain)	-	>8y	-	-	-	LGMD	limb-girdle muscular dystrophy-1C; RMD; rippling, PIRCs, weakness proximal upper & lower limbs, mild hypertrophy, no pain, EMG myopathic features, biopsy normal; CPK 1340	CAV3	CAV3	1	1	Ottie O'Brien
00108248	-	PubMed: Minetti 1998, OMIM:var0001	3-generation family, 4 affecteds (3F, 1M)	-	-	Italy	-	-	-	-	-	LGMD	limb-girdle muscular dystrophy, type 1C, muscle cramping and calf hypertrophy	CAV3	CAV3	1	4	Johan den Dunnen
00108250	11251997-FamPat3	PubMed: de Paula 2001, PubMed: de Paula 2003	3-generation family, 1 affected, unaffected heterozygous carrier son/daughter	F	yes	Brazil	-	-	-	-	-	LGMD	onset teenager; 18y-more rapid progression; proximal weakness, very enlarged calves, serum CK increased 8-11x; mild limb-girdle muscular dystrophy; motor ability walk	CAV3, FKRP	CAV3, FKRP	2	3	Johan den Dunnen
00108257	-	PubMed: Figarella-Branger, OMIM:var0007	-	F	-	-	-	>71y	-	-	-	LGMD	myalgia, reduced muscle strength	CAV3	CAV3	1	1	Johan den Dunnen
00108261	-	PubMed: Fee, PubMed: So	16 affecteds large family	-	-	United States	-	-	-	-	-	LGMD	variable phenotype (asymptomatic 86y female), limb-girdle muscular dystrophy-1C/RMD	CAV3	CAV3	1	16	Johan den Dunnen
00108263	-	-	relative of 18583131.H3	F	-	United Kingdom (Great Britain)	-	>22y	-	-	-	LGMD	limb-girdle muscular dystrophy-1C; RMD; rippling, PIRCs, no weakness, generalised hypertrophy, pain, EMG myopathic features, sponteneous activities at rest, biopsy mild fibre size variation; CPK 5000	CAV3	CAV3	2	1	Ottie O'Brien
00108264	-	PubMed: Roberts 2006, PubMed: Lo 2008	-	F	-	Australia	white	-	-	-	-	LGMD	CPK 1251	CAV3	CAV3	1	1	Maria Chiotis
00108265	-	PubMed: Ullrich 2011	6 generation family, 14 affecteds	-	-	Germany	-	-	-	-	-	LGMD	variable phenotype, limb-girdle muscular dystrophy-1C/RMD/MPD	CAV3	CAV3	1	14	Johan den Dunnen
00108269	-	PubMed: Sugie 2005	mother and son	M;F	-	Japan	-	-	-	-	-	LGMD	died >6y;>33y; CPK 3430;1700, age onset 3y;?	CAV3	CAV3	1	2	Johan den Dunnen
00108271	-	PubMed: Ullrich 2011	-	F	-	Germany	-	-	-	-	-	LGMD	asymmetric muscle weakness; CPK 830, not wheelchair bound	CAV3	CAV3	2	1	Johan den Dunnen
00108272	-	PubMed: Sugie 2005	mother from family	F	-	Japan	-	>30y	-	-	-	LGMD	CPK raised	CAV3	CAV3	1	1	Johan den Dunnen
00108273	-	PubMed: Sugie 2005	son from family	M	-	Japan	-	>3y	-	-	-	LGMD	CPK raised	CAV3	CAV3	1	1	Johan den Dunnen
00108274	-	-	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	LGMD	-	CAV3	CAV3	1	4	Ottie O'Brien

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Global Variome shared LOVD