All individuals with variants in gene CAV3

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.

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

	Legend	How to query	« First	‹ Prev		1	2	3	4		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
00035119	-	-	-	-	-	Germany	-	-	-	-	-	?	mild proximal myasthenia, CK 460 U/l, suspected autosomal dominant mode of inheritance; mother, her brothers and sisters and maternal grandmother were affected	1	1	Andreas Laner
00035120	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035121	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected limb-gurdle muscular dystrophy, myopathy found in biopsy; family history: sister: LGMD2I (verified genetically), patient: no detection of mutation in the FKRP-gene (2x)	1	1	Andreas Laner
00035122	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected congenital Myotonie	1	1	Andreas Laner
00035123	-	-	-	-	-	Germany	-	-	-	-	-	?	gait disorder, pes cavus	1	1	Andreas Laner
00035124	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected muscle dystrophy	1	1	Andreas Laner
00035125	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected muscle dystrophy	1	1	Andreas Laner
00035126	-	-	-	-	-	Germany	-	-	-	-	-	?	gait disorder, pes cavus	1	1	Andreas Laner
00035127	-	-	-	-	-	Germany	-	-	-	-	-	?	gait disorder, pes cavus	1	1	Andreas Laner
00035128	-	-	-	-	-	Germany	-	-	-	-	-	?	gait disorder, pes cavus	1	1	Andreas Laner
00035129	-	-	-	-	-	Germany	-	-	-	-	-	?	gait disorder, pes cavus	1	1	Andreas Laner
00035130	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected limb-gurdle muscular dystrophy, myopathy found in biopsy; family history: sister: LGMD2I (verified genetically), patient: no detection of mutation in the FKRP-gene (2x)	1	1	Andreas Laner
00035131	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected muscle dystrophy	1	1	Andreas Laner
00064127	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064210	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00074348	-	Fichna ESHG2016 P10.20	-	-	no	Poland	-	-	-	-	-	GDD	-	1	1	Johan den Dunnen
00108196	-	PubMed: McNally, OMIM:var0003	-	F	-	Italy	-	-	-	-	-	LGMD	-	2	1	Johan den Dunnen
00108197	-	PubMed: Kubisch 2003	adopted	M	-	Colombia	-	>20y	-	-	-	RMD2	severe permanent muscle stiffness, rippling, PIRC, delayed motor milestones, contractures Achilles tendon, no cardiomyopathy, normal height; CPK 1500-5000	2	1	Johan den Dunnen
00108198	-	PubMed: Kubisch 2003, PubMed: Jacobi 2010, OMIM:var0010	-	M	-	Italy	-	>29y	-	-	-	RMD2	suspected myositis, no muscle wasting, symmetric weakness (4/5 MRC) neck flexors/shoulder/proximal arm muscles/hip flexors/adductors, voluntary contraction and taps quadriceps provoked rippling muscle surface, muscle percussion evoked mounding/PIRCs; episode of atrial fibrillation, paroxysmal tachyarrhythmia (successfully treated with electrical cardioversion); CPK 1526	2	1	Johan den Dunnen
00108199	-	PubMed: Kubisch 2005, OMIM:var0010	affected brother and sister (possible remote consanguinity)	M;F	?	Germany	-	-	-	-	-	RMD2	CPK 1050;528	2	2	Johan den Dunnen
00108200	-	PubMed: Koopmann 2007	-	-	-	Netherlands	-	-	-	-	-	BRGDA	died >7y;13y	1	4	Johan den Dunnen
00108201	-	PubMed: Koopmann 2007	-	-	-	Netherlands	-	-	-	-	-	BRGDA	-	1	17	Johan den Dunnen
00108202	-	PubMed: Koopmann 2007	-	-	-	Netherlands	-	-	-	-	-	BRGDA	-	1	9	Johan den Dunnen
00108203	-	PubMed: Koopmann 2007	-	-	-	Netherlands	-	-	-	-	-	BRGDA	-	1	29	Johan den Dunnen
00108204	-	PubMed: Lo 2008, Lo WMS2005 L.P.1.02	-	F	-	Australia	white	-	-	-	-	LGMD	-	1	1	Maria Chiotis
00108205	-	-	-	-	-	Netherlands	-	-	-	-	-	Healthy/Control	-	1	1	Ieke Ginjaar
00108206	-	PubMed: Koopmann 2007	-	-	-	Netherlands	-	-	-	-	-	BRGDA	-	1	16	Johan den Dunnen
00108207	-	-	-	-	-	Netherlands	-	-	-	-	-	Healthy/Control	-	1	1	Ieke Ginjaar
00108208	-	-	-	-	-	Netherlands	-	-	-	-	-	Healthy/Control	-	1	1	Ieke Ginjaar
00108209	-	PubMed: Koopmann 2007	-	-	-	Netherlands	-	-	-	-	-	BRGDA	-	1	16	Johan den Dunnen
00108210	-	-	-	-	-	Germany	-	-	-	-	-	Healthy/Control	-	1	1	Lab Müller-Reible
00108211	-	PubMed: Sugie 2005	grandfather from family	M	-	Japan	-	>62y	-	-	-	LGMD	CPK 1578	1	1	Johan den Dunnen
00108212	-	PubMed: Herrmann, OMIM:var0005	-	F	-	Germany	-	-	-	-	-	LGMD	phenotype with myalgia, muscle cramps; CPK 800	1	1	Johan den Dunnen
00108213	-	PubMed: Vorgerd 1999	5-generation family, 19 affecteds	F	-	Germany	-	>37y	-	-	-	RMD2	cramps, stiffness, recurrent pigmenturia, chronic neck stiffness, generalized PIRCs (facial, neck, trunk, extremities), generalised painfull muscle mounding, muscle rippling, muscle hypertrophy calf; CPK 440	1	1	Johan den Dunnen
00108214	-	PubMed: Torbergsen	-	M	-	Norway	-	>20y	-	-	-	RMD2	muscle cramps, intermittent stiffness, muscle rippling, PIRC, no cardiomyopathy, normal height; CPK 919	1	1	Johan den Dunnen
00108215	-	PubMed: Fulizio, OMIM:var0005	4 affecteds	M	-	Italy	-	-	-	-	-	hCK	myopathyathy;hCK; CPK 891	1	4	Johan den Dunnen
00108216	-	PubMed: Fulizio, OMIM:var0005	2 affecteds	F	-	Italy	-	-	-	-	-	?	MP	1	2	Johan den Dunnen
00108217	-	PubMed: Fulizio, OMIM:var0005	-	M	-	Italy	-	-	-	-	-	?	MP; CPK 4000	1	1	Johan den Dunnen
00108218	-	PubMed: Fulizio, OMIM:var0005	-	M	-	Italy	-	-	-	-	-	LGMD	CPK 600	1	1	Johan den Dunnen
00108219	-	-	2 affected brothers	-	-	United Kingdom (Great Britain)	-	-	-	-	-	LGMD	-	2	2	Ottie O'Brien
00108220	-	-	affected daugther	M	-	Germany	-	>46y	-	-	-	RMD2	thickened thighs, 6 years old daughter with thickened thighs; CPK raised	1	2	Lab Müller-Reible
00108221	-	-	-	-	-	Netherlands	-	-	-	-	-	?	-	1	1	Ieke Ginjaar
00108222	-	PubMed: Ricker 1989	mother 02705900-FamB3	F	-	Germany	-	40y	-	-	-	RMD2	muscle stiffness legs; 40y sudden death (cardiac arrhythmia)	1	1	Johan den Dunnen
00108223	-	PubMed: Madrid 2005, OMIM:var0015	affected father and son	M	-	United States	-	-	-	-	-	RMD2	-	1	2	Johan den Dunnen
00108224	-	PubMed: Dotti 2006	grandfather, mother and son family (Age at death >27/>44y/>68y )	M;F;M	-	Italy	-	-	-	-	-	RMD2	CPK 1124;1080;420, age onset 8y;?	1	1	Johan den Dunnen
00108225	-	PubMed: McNally, OMIM:var0003	unaffected relatives of homozygous patient	F	-	United States	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00108226	-	PubMed: de Paula, OMIM:var0003	-	-	-	Brazil	-	-	-	-	-	LGMD	-	1	2	Johan den Dunnen
00108227	-	PubMed: Reijneveld 2006	-	?	-	Netherlands	-	-	-	-	-	hCK	-	1	1	Johan den Dunnen
00108228	-	PubMed: Hayashi	-	-	-	Japan	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00108229	-	PubMed: Alias	mother and brother carrier; discovered from routine blood test	?	-	Spain	-	-	-	-	-	hCK	persistent highCK levels; CPK 981 (mother 1968)	1	3	Johan den Dunnen
00108230	-	-	-	?	-	Germany	-	-	-	-	-	RMD2	-	1	1	Lab Müller-Reible
00108231	-	PubMed: de Paula	-	-	-	Brazil	-	-	-	-	-	LGMD	-	1	1	Johan den Dunnen
00108232	-	-	-	?	-	France	-	-	-	-	-	hCK	cramps, stiffness and myalgia	1	1	Nicolas Levy
00108233	-	PubMed: Fulizio	-	M	-	Italy	-	-	-	-	-	?	MP; CPK 1272	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	1	4	Johan den Dunnen
00108235	-	PubMed: Matsuda	-	?	-	Japan	-	-	-	-	-	LGMD	-	1	1	Johan den Dunnen
00108236	-	PubMed: Hayashi, OMIM:var0013	dominant inheritance	M	-	Japan	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00108237	-	PubMed: Hayashi	-	-	-	Japan	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00108238	-	PubMed: McNally, OMIM:var0004	unaffected mother and 2 siblings carrying same change	F	-	-	-	-	-	-	-	LGMD	-	1	4	Johan den Dunnen
00108239	-	PubMed: de Paula, OMIM:var0004	-	-	-	Brazil	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00108240	-	-	-	-	-	Netherlands	-	-	-	-	-	LGMD	-	1	1	Ieke Ginjaar
00108241	-	-	-	-	-	Italy	-	-	-	-	-	?	-	1	1	Andrea Nuccitelli
00108242	-	PubMed: Reijneveld 2006	-	?	-	Netherlands	-	-	-	-	-	hCK	-	1	1	Johan den Dunnen
00108243	-	PubMed: Kubisch 2005, OMIM:var0010	parents RMD patients	M;F	-	Germany	-	-	-	-	-	Healthy/Control	died >40y;38y; CPK 74;157	1	1	Johan den Dunnen
00108244	-	-	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	LGMD	-	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	1	8	Johan den Dunnen
00108246	-	-	carrier father has isolated hCK	?	-	France	-	-	-	-	-	hCK	cramps, stiffness and weakness	1	1	Nicolas Levy
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	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	1	4	Johan den Dunnen
00108249	-	PubMed: Ricker 1989	-	M	-	Germany	-	>23y	-	-	-	RMD2	pronounced muscle stiffness/rippling muscle/local mounding; CPK 680-1900	1	1	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	1	3	Johan den Dunnen
00108251	-	-	-	-	-	Netherlands	-	-	-	-	-	?	-	1	1	Ieke Ginjaar
00108252	-	PubMed: Voermans 2008	son of 61941.1	M	-	Netherlands	-	>16y	-	-	-	RMD2	###; CPK 202-2151; motor ability sit-18m, walk-2y	1	1	Ieke Ginjaar
00108253	-	PubMed: Carbone, OMIM:var0007	-	M	-	Italy	-	-	-	-	-	hCK	CPK ~1060	1	1	Johan den Dunnen
00108254	-	PubMed: Vorgerd 1999	father of 11431690-FamBIII1	M	-	Germany	-	>48y	-	-	-	RMD2	stiffness, cramps, chronic neck stiffness, generalized PIRCs (facial, neck, trunk, extremities), generalised painfull muscle mounding, slight muscle rippling, generalised muscle hypertrophy; CPK 106	1	1	Johan den Dunnen
00108255	-	PubMed: Vorgerd 2001	-	M	-	Germany	-	>24y	-	-	-	RMD2	CPK ~699	1	1	Johan den Dunnen
00108256	-	PubMed: Tateyama, OMIM:var0007	-	F	-	Japan	-	-	-	-	-	?	MPD; CPK ~2125	1	1	Johan den Dunnen
00108257	-	PubMed: Figarella-Branger, OMIM:var0007	-	F	-	-	-	>71y	-	-	-	LGMD	myalgia, reduced muscle strength	1	1	Johan den Dunnen
00108258	-	PubMed: Yabe	8 affecteds 4 generation family	-	-	Japan	-	-	-	-	-	RMD2	-	1	4	Johan den Dunnen
00108259	-	PubMed: Carbone, OMIM:var0007	-	F	-	Italy	-	-	-	-	-	hCK	CPK ~630	1	1	Johan den Dunnen
00108260	-	PubMed: Yabe	3 affecteds 3 generation family	-	-	Japan	-	-	-	-	-	RMD2	-	1	3	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	1	16	Johan den Dunnen
00108262	-	PubMed: Fulizio, OMIM:var0007	mother carrier	M	-	Italy	-	-	-	-	-	hCK	CPK 8500	1	2	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	2	1	Ottie O'Brien
00108264	-	PubMed: Roberts 2006, PubMed: Lo 2008	-	F	-	Australia	white	-	-	-	-	LGMD	CPK 1251	1	1	Maria Chiotis
00108265	-	PubMed: Ullrich 2011	6 generation family, 14 affecteds	-	-	Germany	-	-	-	-	-	LGMD	variable phenotype, limb-girdle muscular dystrophy-1C/RMD/MPD	1	14	Johan den Dunnen
00108266	-	PubMed: van den Bergh	Belgium/Italian descent (mother affected carrier)	F	-	Belgium;Italy	-	-	-	-	-	RMD2	CPK 1184	1	1	Johan den Dunnen
00108267	-	PubMed: Merlini, PubMed: Capanni, OMIM:var0012	mother and son	M;F	-	Italy	-	-	-	-	-	hCK	no muscle weakness; CPK 2600;550	1	2	Johan den Dunnen
00108268	-	PubMed: Fulizio, OMIM:var0014	mother and daugther	F;F	-	Italy	-	-	-	-	-	?	MPD; CPK 1780;674, age onset 30y;27y	1	2	Johan den Dunnen
00108269	-	PubMed: Sugie 2005	mother and son	M;F	-	Japan	-	-	-	-	-	LGMD	died >6y;>33y; CPK 3430;1700, age onset 3y;?	1	2	Johan den Dunnen
00108270	-	PubMed: Hayashi	-	-	-	Japan	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00108271	-	PubMed: Ullrich 2011	-	F	-	Germany	-	-	-	-	-	LGMD	asymmetric muscle weakness; CPK 830, not wheelchair bound	2	1	Johan den Dunnen
00108272	-	PubMed: Sugie 2005	mother from family	F	-	Japan	-	>30y	-	-	-	LGMD	CPK raised	1	1	Johan den Dunnen
00108273	-	PubMed: Sugie 2005	son from family	M	-	Japan	-	>3y	-	-	-	LGMD	CPK raised	1	1	Johan den Dunnen
00108274	-	-	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	LGMD	-	1	4	Ottie O'Brien
00108275	-	-	-	-	-	Netherlands	-	-	-	-	-	Healthy/Control	-	1	1	Ieke Ginjaar
00108276	-	-	-	-	-	Netherlands	-	-	-	-	-	Healthy/Control	-	1	1	Ieke Ginjaar
00108277	-	PubMed: Fee	-	-	-	United States	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00108278	-	-	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	LGMD	-	1	7	Ottie O'Brien
00108279	-	-	-	-	-	Netherlands	-	-	-	-	-	Healthy/Control	-	1	1	Ieke Ginjaar

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Global Variome shared LOVD

CAV3 (caveolin 3)