All individuals with variants in gene DES

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.

387 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
00053148	-	PubMed: Brodehl 2013	4-generation family, 15 affecteds	-	no	United States	-	-	-	-	-	CM	-	1	15	Andreas Brodehl
00053149	-	PubMed: Klauke 2010	-	F	no	Germany	white	-	-	-	-	ARVD/C	arrhythmogenic right ventricular cardiomyopathy (task force criteria), terminal heart failure; aggresome formation in cardiac (esp. right ventricle) and skeletal muscle, no overt clinical myopathy; heart transplant 17y and 21y	1	1	Andreas Brodehl
00053150	-	PubMed: Brodehl 2013	5-generation family, 5 affecteds	-	no	-	-	-	-	-	-	ARVD/C	palpitations, borderline arrhythmogenic right ventricular cardiomyopathy; no peripheral muscular involvement	1	5	Andreas Brodehl
00064076	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064087	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064114	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	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	1	2	Johan den Dunnen
00072158	26724190-PatIII2	PubMed: Brodehl 2015, Journal: Brodehl 2015	4-generation family, 3 affected (3M)	M	no	Germany	white	>48y	-	-	-	CMD1I	biventricular dilatation (HP:0001713), sick sinus syndrome (HP:0011704), no skeletal muscle atrophy (HP:0003202), muscle weakness (HP:0001324), heart transplantation; 2 maternal cousins died due to sudden cardiac deaths (SCD)	1	3	Pieter Klap
00072159	FamilyA	PubMed: Otten 2010, Journal: Otten 2010	2-generation family, 2 affected (2M)	M	-	Netherlands	-	>46y	-	-	-	ARVC	Lower limb muscle weakness (HP:0007340), palpitations (HP:001962), atrial fibrillation (HP:0005110), first degree atrioventricular block (HP:0011705), sinus arrests, ventricular extrasystoles (HP:0006682), hypokinesia (HP:0002375), akinesia (HP:0002304), dilated left ventricle (HP:0001711),	1	2	Pieter Klap
00072161	FamilyB	PubMed: Otten 2010, Journal: Otten 2010	2-generation family, 2 affected (F, M)	F	-	Netherlands	-	28y	-	-	-	ARVC	atrioventricular block (HP:0001678), fatigue (HP:0012378), increased diameter of the left atrium (HP:0005120), increased diameter of the right ventricle (HP:0001707), slow ventricular escape rhythm (HP:0005155)	1	2	Pieter Klap
00072164	23815709 III-1	PubMed: McLaughlin 2013, Journal: McLaughlin 2013	-	F	-	-	-	>27y	-	-	-	?	inability to walk (HP:0002540), mild ptosis (HP:0000508), significant limitation of extraocular motility (HP:0000496), no retinopathy (HP:0000488), dextroscoliosis (HP:0002650), ankle contractures (HP:0006466), elbow contractures (HP:0002987), joint contractures of the hand (HP:0009473), cardiomyopathy (HP:0001638)	2	1	Pieter Klap
00072172	19879535 A-VI-2	PubMed: van Tintelen 2009, Journal: van Tintelen 2009	Cause of death: progressive right ventricle failure	F	-	-	58y	-	-	-	-	?	Palpitations (HP:0001962), complete atrioventricular block (HP:0001678), Dilated cardiomyopathy (HP:0001644), Hypertrophic cardiomyopathy (HP:0001639), Atrial fibrillation (HP:0005110), nonsustained ventricular tachycardia (HP:0004756)	1	2	Pieter Klap
00072178	19879535 A-VI-4	PubMed: van Tintelen 2009, Journal: van Tintelen 2009	-	F	-	-	-	>52y	-	-	-	?	Right bundle branch block (HP:0011712), Left bundle branch block (HP:0011713), low-voltage ECG (HP:0011675), premature ventricular beat (HP:0004308), left atrial enlargement (HP:0005120), Mild proximal myopathy legs (HP:0003797), Hypertension (HP:0000822), palpitations (HP:0001962),	1	1	Pieter Klap
00072183	19879535 A-VI-5	PubMed: van Tintelen 2009, Journal: van Tintelen 2009	-	M	-	-	-	>43y	-	-	-	?	Congestive heart failure (HP:0001635), Right bundle branch block (HP:0011712), low-voltage ECG (HP:0011675), Atrial fibrillation (HP:0005110), Tricuspid regurgitation (HP:0005180), mild polyneuropathy (HP:0001271), Endocardial fibrosis (HP:0006685), arrhythmogenic right ventricular cardiomyopathy (HP:0011663), Lymphoma (HP:0002665)	1	3	Pieter Klap
00072189	19879535 A-VI-7	PubMed: van Tintelen 2009, Journal: van Tintelen 2009	-	M	-	-	-	>37y	-	-	-	?	Ventricular tachycardia (HP:0004756), Left bundle branch block (HP:0011713), low-voltage ECG (HP:0011675), implantable cardioverter-defibrillator	1	1	Pieter Klap
00072192	19879535 A-VII-3	PubMed: van Tintelen 2009, Journal: van Tintelen 2009	Son of individual #00072172	M	-	-	-	>28y	-	-	-	?	Exercise related palpitations (HP:0001962), Repolarization abnormality (HP:0011675), premature ventricular beat (HP:0004308), Left bundle branch block (HP:0011713), ventricular tachycardia (HP:0004756), implantable cardioverter-defibrillator	1	1	Pieter Klap
00072201	19879535 A-VII-4	PubMed: van Tintelen 2009, Journal: van Tintelen 2009	Son of individual #00072183	M	-	-	-	>18y	-	-	-	?	Repolarization abnormality (HP:0011675), Right bundle branch block (HP:0011712), premature ventricular beat (HP:0004308), left ventricular hypertrophy (HP:0001712), palpitations (HP:0001962)	1	1	Pieter Klap
00072202	19879535 A-VII-5	PubMed: van Tintelen 2009, Journal: van Tintelen 2009	Son of individual #00072183	M	-	-	-	>15y	-	-	-	?	Repolarization abnormality (ECG) (HP:0011675), Epsilon wave (ECG) (HP:0011675), Right bundle branch block (HP:0011712), ventricular tachycardia (HP:0004756), diastolic dysfunction (HP:0011025), implantable cardioverter-defibrillator	1	1	Pieter Klap
00072204	19879535 B-VI-9	PubMed: van Tintelen 2009, Journal: van Tintelen 2009	-	F	-	-	-	51y	-	-	-	?	Palpitations (HP:0001962), unspecified cardiomyopathy (HP:0001638), premature ventricular beat (HP:0004308), Atrial fibrillation (HP:0005110), Right ventricular congestive heart failure (HP:0001635), Limb-girdle muscular dystrophy (HP:0006785), Elevated serum creatine phosphokinase (HP:0003236), Endocardial fibrosis (HP:0006685),	1	1	Pieter Klap
00072205	19879535 B-VII-6	PubMed: van Tintelen 2009, Journal: van Tintelen 2009	-	M	-	-	-	>35y	-	-	-	?	atrioventricular block (HP:0001678), pace maker, mild left ventricular hypertrophy (HP:0001712), diastolic left ventricle dysfunction (HP:0001711),	1	1	Pieter Klap
00072207	19879535 B-VII-7	PubMed: van Tintelen 2009, Journal: van Tintelen 2009	-	F	-	-	-	>37y	-	-	-	?	atrioventricular block (HP:0001678), pace maker, diastolic left ventricle dysfunction (HP:0001711), Elevated serum creatine phosphokinase (HP:0003236),	1	1	Pieter Klap
00072209	19879535 C-VII-8	PubMed: van Tintelen 2009, Journal: van Tintelen 2009	-	M	-	-	-	>49y	-	-	-	?	aspecific intraventricular conduction delay, Second degree atrioventricular block (HP:0011706), Left anterior fascicular block (HP:0011711), nonsustained ventricular tachycardia (HP:0004756), Right bundle branch block (HP:0011712), Dilated cardiomyopathy (HP:0001644), Left ventricular noncompaction (HP:0030682), implantable cardioverter-defibrillator	1	1	Pieter Klap
00072210	19879535 C-VII-10	PubMed: van Tintelen 2009, Journal: van Tintelen 2009	-	M	-	-	-	>40y	-	-	-	?	premature ventricular beat (HP:0004308), Distal myopathy (HP:0003198), complete atrioventricular block (HP:0001678), pacemaker, Dilated cardiomyopathy (HP:0001644), Elevated serum creatine phosphokinase (HP:0003236), Endocardial fibrosis (HP:0006685),	1	1	Pieter Klap
00072211	19879535 C-VIII-1	PubMed: van Tintelen 2009, Journal: van Tintelen 2009	Father had a sudden cardiac death at age 40.	M	-	-	-	>21y	-	-	-	?	Right bundle branch block (HP:0011712),	1	1	Pieter Klap
00072213	19879535 D-II-5	PubMed: van Tintelen 2009, Journal: van Tintelen 2009	-	M	-	-	-	>63y	-	-	-	?	Arrhythmia (HP:0011675), premature ventricular beat (HP:0004308), left anterior fascicular hemiblock (HP:0011711), Right bundle branch block (HP:0011712), atrial fibrillation (HP:0005110), first degree atrioventricular block (HP:0011705), Palpitations (HP:0001962), dilated cardiomyopathy (HP:0001644), Muscular weakness (HP:0001324), limb-girdle muscular dystrophy (HP:0006785), elevate serum creatine phosphokinase (HP:0003236), muscular dystrophy (HP:0003560), implantable cardioverter-defibrillator, coronary artery disease (HP:0001677)	1	1	Pieter Klap
00072214	19879535 D-III-1	PubMed: van Tintelen 2009, Journal: van Tintelen 2009	-	F	-	-	-	>34y	-	-	-	?	Right bundle branch block (HP:0011712)	1	1	Pieter Klap
00072215	19879535 D-III-2	PubMed: van Tintelen 2009, Journal: van Tintelen 2009	-	F	-	-	-	>41y	-	-	-	?	Arrhythmia (HP:0011675), Right bundle branch block (HP:0011712), complete atrioventricular block (HP:0001678), pacemaker, left ventricular hypertrophy (HP:0001712)	1	1	Pieter Klap
00072216	19879535 E-I-2	PubMed: van Tintelen 2009, Journal: van Tintelen 2009	-	F	-	-	-	>62y	-	-	-	?	Muscular weakness (HP:0001324), incomplete right bundle branch block (HP:0011712), Unspecified distal myopathy (HP:0003198),	1	1	Pieter Klap
00072217	19879535 E-II-1	PubMed: van Tintelen 2009, Journal: van Tintelen 2009	-	M	-	-	-	>39y	-	-	-	?	Muscular weakness (HP:0001324), complete atrioventricular block (HP:0001678), Pacemaker, elevate serum creatine phosphokinase (HP:0003236),	1	1	Pieter Klap
00072222	FamF-III-1	PubMed: van Spaendonck-Zwarts 2012, Journal: van Spaendonck-Zwarts 2012	-	M	-	Netherlands	Dutch	43y	-	-	-	?	Arrhythmia (HP:0011675), atrioventricular block (HP:0001678), right bundle branch block (HP:0011712), atrial flutter (HP:0004749), dilated cardiomyopathy (HP:0001644), severe left ventricle dysfunction (HP:0001711), severe right ventricle dysfunction (HP:0001707), muscular weakness (HP:0001324), pacemaker, Congestive heart failure (HP:0001635)	1	1	Pieter Klap
00072224	FamG-III-1	PubMed: van Spaendonck-Zwarts 2012, Journal: van Spaendonck-Zwarts 2012	-	M	-	Netherlands	Dutch	>52y	-	-	-	?	sick sinus syndrome (HP:0011704), non-sustained ventricular tachycardia (HP:0004756), premature ventricular contraction (HP:0004308), right bundle branch block (HP:0011712), Left anterior fascicular block (HP:0011711), First degree atrioventricular block (HP:0011705), Second degree atrioventricular block (HP:0011706), complete atrioventricular block (HP:0001678), dilated cardiomyopathy (HP:0001644), moderate left ventricle dysfunction (HP:0001711), severe right ventricle dysfunction (HP:0001707), pacemaker, implantable cardioverter defibrillator	1	1	Pieter Klap
00072227	FamH-III-1	PubMed: van Spaendonck-Zwarts 2012, Journal: van Spaendonck-Zwarts 2012	-	F	-	Netherlands	Dutch	>40y	-	-	-	?	complete atrioventricular block (HP:0001678), mild left ventricle dysfunction (HP:0001711), pacemaker, implantable cardioverter defibrillator	1	1	Pieter Klap
00072228	FamO-IV-2	PubMed: van Spaendonck-Zwarts 2012, Journal: van Spaendonck-Zwarts 2012	5-generation family, 14 affected (10F, 4M)	F	-	Netherlands	Dutch	>45y	-	-	-	?	Muscle weakness (HP:0001324), right bundle branch block (HP:0011712), bulbar (HP:0002483), Neck flexor weakness (HP:0003722),	1	14	Pieter Klap
00072229	FamO-III-12	PubMed: van Spaendonck-Zwarts 2012, Journal: van Spaendonck-Zwarts 2012	-	F	-	Netherlands	Dutch	>63y	-	-	-	?	Muscle weakness (HP:0001324), Repolarisation abnormality (HP:0011675), Left ventricular hypertrophy (HP:0001712), Scoliosis (HP:0002650), Scapuloperoneal myopathy (HP:0009054)	1	1	Pieter Klap
00072235	FamO-III-14	PubMed: van Spaendonck-Zwarts 2012, Journal: van Spaendonck-Zwarts 2012	-	M	-	Netherlands	Dutch	54y	-	-	-	?	Muscle weakness (HP:0001324), Repolarisation abnormality (HP:0011675), atrial arrhythmia (HP:0001692), Right bundle branch block (HP:0011712), Bulbar signs (HP:0002483),	1	1	Pieter Klap
00072237	FamO-III-15	PubMed: van Spaendonck-Zwarts 2012, Journal: van Spaendonck-Zwarts 2012	-	F	-	Netherlands	Dutch	>51y	-	-	-	?	Muscle weakness (HP:0001324), Primary atrial arrhythmia (HP:0001692), Repolarisation abnormality (HP:0011675), right bundle branch block (HP:0011712), Left anterior fascicular block (HP:0011711), slight left atrium enlargement (HP:0005120),	1	1	Pieter Klap
00072238	FamO-IV-9	PubMed: van Spaendonck-Zwarts 2012, Journal: van Spaendonck-Zwarts 2012	-	F	-	Netherlands	Dutch	>35y	-	-	-	?	Muscle weakness (HP:0001324), bulbar (HP:0002483), Neck flexor weakness (HP:0003722), Scapuloperoneal myopathy (HP:0009054)	1	1	Pieter Klap
00072239	FamU-III-14	PubMed: van Spaendonck-Zwarts 2012, Journal: van Spaendonck-Zwarts 2012	4-generation family, 19 affected (11F, 8M)	F	-	Netherlands	Dutch	44y	-	-	-	?	Left anterior fascicular block (HP:0011711), peroneal myopathy (HP:0001430),	1	19	Pieter Klap
00072240	FamU-III-15	PubMed: van Spaendonck-Zwarts 2012, Journal: van Spaendonck-Zwarts 2012	-	F	-	Netherlands	Dutch	53y	-	-	-	?	Repolarisation abnormality (HP:0011675), Scapuloperoneal myopathy (HP:0009054),	1	1	Pieter Klap
00072241	FamU-III-17	PubMed: van Spaendonck-Zwarts 2012, Journal: van Spaendonck-Zwarts 2012	-	F	-	Netherlands	Dutch	38y	-	-	-	?	Muscle weakness (HP:0001324), Ventricular extrasystoles (HP:0006682), Ventricular arrhythmia (HP:0004308), non-sustained ventricular tachycardia (HP:0004756), Repolarisation abnormality (HP:0011675), peroneal myopathy (HP:0001430), Elevated serum creatine phosphokinase (HP:0003236)	1	1	Pieter Klap
00072259	FamU-IV-5	PubMed: van Spaendonck-Zwarts 2012, Journal: van Spaendonck-Zwarts 2012	-	M	-	Netherlands	Dutch	41y	-	-	-	?	ilio-peroneal myopathy (HP:0001430), Neck flexor weakness (HP:0003722), palpitations (HP:0001962), Exertional dyspnea (HP:0002875)	1	1	Pieter Klap
00072261	FamU-IV-9	PubMed: van Spaendonck-Zwarts 2012, Journal: van Spaendonck-Zwarts 2012	-	F	-	Netherlands	Dutch	>29y	-	-	-	?	scapulo-ilio-peroneal myopathy (HP:0009054),	1	1	Pieter Klap
00072266	22153487 F1-1	PubMed: Wahbi 2012, Journal: Wahbi 2012	family, 3 carriers	M	-	(France)	-	>54y	-	-	-	?	Elevated serum creatine phosphokinase (HP:0003236), Bifascicular block (HP:0011710),	1	3	Pieter Klap
00072267	22153487 F2-1	PubMed: Wahbi 2012, Journal: Wahbi 2012	-	F	-	(France)	-	>33y	-	-	-	?	palpitations (HP:0001962), Bifascicular block (HP:0011710)	1	1	Pieter Klap
00072270	22153487 F2-2	PubMed: Wahbi 2012, Journal: Wahbi 2012	-	M	-	(France)	-	>50y	-	-	Pacemaker	?	Vertigo (HP:0002321), palpitations (HP:0001962), Bifascicular block (HP:0011710), Dilated cardiomyopathy (HP:0001644), Reduced ejection fraction (HP:0012664), Elevated serum creatine phosphokinase (HP:0003236),	1	1	Pieter Klap
00072271	22153487 F2-3	PubMed: Wahbi 2012, Journal: Wahbi 2012	-	F	-	(France)	-	>71y	-	-	pacemaker	?	Vertigo (HP:0002321), palpitations (HP:0001962), Trifascicular block (HP:0011715), Hypertrophic cardiomyopathy (HP:0001639),	1	1	Pieter Klap
00072272	22153487 F3-1	PubMed: Wahbi 2012, Journal: Wahbi 2012	-	F	-	(France)	-	>33y	-	-	Pacemaker	?	Paced rhythm (HP:0011675), Third degree atrioventricular block (HP:0001709)	1	1	Pieter Klap
00072273	22153487 F3-2	PubMed: Wahbi 2012, Journal: Wahbi 2012	-	F	-	(France)	-	>27y	-	-	Pacemaker	?	Paced rhythm (HP:0011675), Third degree atrioventricular block (HP:0001709)	1	1	Pieter Klap
00072274	22153487 F4-1	PubMed: Wahbi 2012, Journal: Wahbi 2012	-	M	-	(France)	-	>38y	-	-	Pacemaker	?	Third degree atrioventricular block (HP:0001709), Dyspnea (HP:0002094), Trifascicular block (HP:0011715), Dilated cardiomyopathy (HP:0001644), Reduced ejection fraction (HP:0012664), Elevated serum creatine phosphokinase (HP:0003236)	1	1	Pieter Klap
00072275	22153487 F5-1	PubMed: Wahbi 2012, Journal: Wahbi 2012	-	M	-	(France)	-	>36y	-	-	Pacemaker	?	Paced rhythm (HP:0011675), Third degree atrioventricular block (HP:0001709)	1	1	Pieter Klap
00072276	22153487 F6-1	PubMed: Wahbi 2012, Journal: Wahbi 2012	-	F	-	(France)	-	>44y	-	-	-	?	Elevated serum creatine phosphokinase (HP:0003236), Ventricular tachycardia (HP:0004756), Dyspnea (HP:0002094), Left bundle branch block (HP:0011713), Dilated cardiomyopathy (HP:0001644), Reduced ejection fraction (HP:0012664),	1	1	Pieter Klap
00072277	22153487 F6-2	PubMed: Wahbi 2012, Journal: Wahbi 2012	-	M	-	(France)	-	>74y	-	-	-	?	Hypertrophic cardiomyopathy (HP:0001639), Abnormality of the right ventricle (HP:0001707)	1	1	Pieter Klap
00072278	22153487 F7-1	PubMed: Wahbi 2012, Journal: Wahbi 2012	-	M	-	(France)	-	>25y	-	-	-	?	Congestive heart failure (HP:0001635), Dyspnea (HP:0002094), Hypertrophic cardiomyopathy (HP:0001639), Abnormality of the right ventricle (HP:0001707), Elevated serum creatine phosphokinase (HP:0003236), Reduced ejection fraction (HP:0012664)	1	1	Pieter Klap
00072279	22153487 F8-1	PubMed: Wahbi 2012, Journal: Wahbi 2012	-	F	-	(France)	-	>33y	-	-	Pacemaker	?	Third degree atrioventricular block (HP:0001709), Paced rhythm (HP:0011675), Hypertrophic cardiomyopathy (HP:0001639), Abnormality of the right ventricle (HP:0001707), Elevated serum creatine phosphokinase (HP:0003236)	1	1	Pieter Klap
00072280	22153487 F8-2	PubMed: Wahbi 2012, Journal: Wahbi 2012	-	F	-	(France)	-	>09y	-	-	-	?	Palpitations (HP:0001962), Right bundle branch block (HP:0011712), Atrial flutter (HP:0004749),	1	1	Pieter Klap
00072282	22153487 F9-1	PubMed: Wahbi 2012, Journal: Wahbi 2012	-	F	-	(France)	-	>31y	-	-	Pacemaker	?	Elevated serum creatine phosphokinase (HP:0003236), Third degree atrioventricular block (HP:0001709), Paced rhythm (HP:0011675), Atrial fibrillation (HP:0005110)	1	1	Pieter Klap
00072287	22153487 F10-1	PubMed: Wahbi 2012, Journal: Wahbi 2012	-	M	-	(France)	-	>54y	-	-	-	?	Atrial fibrillation (HP:0005110), Trifascicular block (HP:0011715), Abnormality of the right ventricle (HP:0001707), Elevated serum creatine phosphokinase (HP:0003236),	1	1	Pieter Klap
00072288	22153487 F10-2	PubMed: Wahbi 2012, Journal: Wahbi 2012	-	M	-	(France)	-	>28y	-	-	-	?	Right bundle branch block (HP:0011712),	1	1	Pieter Klap
00072289	22153487 F11-1	PubMed: Wahbi 2012, Journal: Wahbi 2012	-	M	-	(France)	-	>49y	-	-	-	?	Elevated serum creatine phosphokinase (HP:0003236), Palpitations (HP:0001962), Bifascicular block (HP:0011710), Hypertrophic cardiomyopathy (HP:0001639)	1	1	Pieter Klap
00072290	22153487 F12-1	PubMed: Wahbi 2012, Journal: Wahbi 2012	-	M	-	(France)	-	>44y	-	-	-	?	Left posterior fascicular block (HP:0005172), Hypertrophic cardiomyopathy (HP:0001639), Elevated serum creatine phosphokinase (HP:0003236)	1	1	Pieter Klap
00072291	22153487 F13-1	PubMed: Wahbi 2012, Journal: Wahbi 2012	-	F	-	(France)	-	>44y	-	-	-	?	Left bundle branch block (HP:0011713),	1	1	Pieter Klap
00072292	22153487 F13-2	PubMed: Wahbi 2012, Journal: Wahbi 2012	-	F	-	(France)	-	>27y	-	-	-	?	Elevated serum creatine phosphokinase (HP:0003236)	1	1	Pieter Klap
00072293	22153487 F13-3	PubMed: Wahbi 2012, Journal: Wahbi 2012	-	M	-	(France)	-	>36y	-	-	-	?	Elevated serum creatine phosphokinase (HP:0003236), Palpitations (HP:0001962), Right bundle branch block (HP:0011712),	1	1	Pieter Klap
00072294	22153487 F14-1	PubMed: Wahbi 2012, Journal: Wahbi 2012	-	M	-	(France)	-	>48y	-	-	Pacemaker	?	Elevated serum creatine phosphokinase (HP:0003236), Vertigo (HP:0002321), First degree atrioventricular block (HP:0011705), Sinuspauses (HP:0011675),	1	1	Pieter Klap
00072295	22153487 F15-1	PubMed: Wahbi 2012, Journal: Wahbi 2012	-	M	-	(France)	-	>29y	-	-	Pacemaker	?	Palpitations (HP:0001962), Vertigo (HP:0002321), Trifascicular block (HP:0011715), Hypertrophic cardiomyopathy (HP:0001639)	1	1	Pieter Klap
00072296	22153487 F16-1	PubMed: Wahbi 2012, Journal: Wahbi 2012	-	M	-	(France)	-	>29y	-	-	-	?	Elevated serum creatine phosphokinase (HP:0003236), Bifascicular block (HP:0011710), Abnormality of the right ventricle (HP:0001707)	1	1	Pieter Klap
00072297	22153487 F17-1	PubMed: Wahbi 2012, Journal: Wahbi 2012	-	M	-	(France)	-	>27y	-	-	implantable cardioverter defibrillator	?	Elevated serum creatine phosphokinase (HP:0003236), Atrial fibrillation (HP:0005110), Third degree atrioventricular block (HP:0001709), Supraventricular tachycardia (HP:0004755), Dyspnea (HP:0002094), syncope (HP:0001279), Atrial fibrillation (HP:0005110), paced rhythm (HP:0011675), Congestive heart failure (HP:0001635), Restrictive cardiomyopathy (HP:0001723), Reduced ejection fraction (HP:0012664), Abnormality of the right ventricle (HP:0001707)	1	1	Pieter Klap
00072298	22153487 F18-1	PubMed: Wahbi 2012, Journal: Wahbi 2012	-	F	-	(France)	-	>30y	-	-	-	?	Vertigo (HP:0002321), palpitations (HP:0001962), Left anterior fascicular block (HP:0011711),	1	1	Pieter Klap
00072299	22153487 F18-2	PubMed: Wahbi 2012, Journal: Wahbi 2012	-	M	-	(France)	-	>16y	-	-	-	?	Left bundle branch block (HP:0011713), Hypertrophic cardiomyopathy (HP:0001639)	1	1	Pieter Klap
00072300	22153487 F19-1	PubMed: Wahbi 2012, Journal: Wahbi 2012	-	M	-	(France)	-	>33y	-	-	-	?	Elevated serum creatine phosphokinase (HP:0003236), Right bundle branch block (HP:0011712)	1	1	Pieter Klap
00072339	25557463 F1-III-1	PubMed: Weihl 2015, Journal: Weihl 2015	3-generation family, 6 affected (2F, 4M)	M	-	United States	-	>40y	-	-	-	?	Congestive heart failure (HP:0001635), Hypokinesia (HP:0002375), Reduced ejection fraction (HP:0012664), Third degree atrioventricular block (HP:0001709), biatrial enlargement (HP:0011675), Elevated serum creatine phosphokinase (HP:0003236),	1	6	Pieter Klap
00072340	25557463 F2-III-3	PubMed: Weihl 2015, Journal: Weihl 2015	3-generation family, 3 affected (3M)	M	-	United States	-	>63y	-	-	-	?	Type II diabetes mellitus (HP:0005978), Congestive heart failure (HP:0001635), dilated cardiomyopathy (HP:0001644), Reduced ejection fraction (HP:0012664), Elevated serum creatine phosphokinase (HP:0003236),	1	3	Pieter Klap
00072341	25557463 F2-II-1	PubMed: Weihl 2015, Journal: Weihl 2015	2-generation family, 3 affected (2F, M)	F	-	United States	white	>33y	-	-	implantable cardioverter defibrillator	?	dilated cardiomyopathy (HP:0001644), mild Neck flexor weakness (HP:0003722), Dysphagia (HP:0002015)	1	1	Pieter Klap
00072344	FamPatIII-1	PubMed: McCormick 2015, Journal: McCormick 2015	4-generation family, 5 affected (3F, 2M)	M	-	United States	white	>45y	-	-	Pacemaker	?	atrial flutter (HP:0004749), right hypertrophic cardiomyopathy (HP:0001639), congestive heart failure (HP:0001635), Lower limb muscle weakness (HP:00073400), distal myopathy (HP:0003198), short stature (HP:0004322), progressive photophobia (HP:0000613), hoarse voice (HP:0001609), gastroesophageal reflux (HP:0002020), Dysphagia (HP:0002015), progressive truncal obesity (HP:0001956), intermittent depression (HP:0000716), Unconjugated hyperbilirubinemia (HP:0008282), Elevated serum creatine phosphokinase (HP:0003236),	1	5	Pieter Klap
00072349	FamDP-III-3	PubMed: Fichna 2014, Journal: Fichna 2014	2-generation family, 2 affected (F, M)	M	-	(Poland)	white	>24y	-	-	-	?	Distal lower limb amyotrophy (HP:0008944), Lower limb muscle weakness (HP:0007340), Exercise-induced muscle cramps (HP:0003710), Hyporeflexia of lower limbs (HP:0002600), Elevated serum creatine phosphokinase (HP:0003236),	1	2	Pieter Klap
00072350	FamZP-IV-2	PubMed: Fichna 2014, Journal: Fichna 2014	5-generation family, 8 affected (4F, 4M)	F	-	Poland	-	-	-	-	-	?	High, narrow palate (HP:0002705), left thenar muscle atrophy (HP:0003393), Lower limb muscle weakness (HP:0007340), Elevated serum creatine phosphokinase (HP:0003236), EMG: myopathic abnormalities of the right biceps and right vastus lateralis muscles (HP:0003458),	1	8	Pieter Klap
00072351	FamKP-IV-44	PubMed: Fichna 2014, Journal: Fichna 2014	6-generation family, 11 affected (6F, 5M)	F	-	Poland	-	>49y	-	-	-	?	Proximal muscle weakness in lower limbs (HP:0008994), Skeletal muscle atrophy (HP:0003202), Exertional dyspnea (HP:0002875), Areflexia of lower limbs (HP:0002522), Elevated serum creatine phosphokinase (HP:0003236), EMG: myopathic abnormalities of the biceps first dorsal interosseous, vastus lateralis and tibialis anterior muscles (HP:0003458)	1	11	Pieter Klap
00072354	20636320 pt1	PubMed: Sung 2011, Journal: Sung 2011	-	F	-	Mongolia	-	>36y	-	-	-	?	Premature rupture of membranes (HP:0001788), Caesarian section (HP:0011410), Congestive heart failure (HP:0001635), Prolonged QTc interval (HP:0005184), Exertional dyspnea (HP:0002875),	1	1	Pieter Klap
00073109	Fam3Pat8/IV:2	PubMed: Walter 2007, Journal: Walter 2007	4-generation family, 5 affected (F, 4M)	M	yes	Germany	-	>48y	-	-	-	SCPNK	Distal muscle weakness (HP:0002460), mild dysphagia (HP:0002015), Gynecomastia (HP:0000771), Elevated serum creatine phosphokinase (HP:0003236), EMG: myopathic abnormalities (HP:0003458), Degenerative myopathy with neurogenic-like changes (HP:0003198),	1	5	Pieter Klap
00073110	Pam5Pat14/IV:3	PubMed: Walter 2007, Journal: Walter 2007	5-generation family, 5 affected (3F, 2M)	F	-	Germany	-	>33y	-	-	-	SCPNK	Myalgia (HP:0003326), Difficulty climbing stairs (HP:0003551), Limb-girdle muscular dystrophy (HP:0006785), Lower limb muscle weakness (HP:0007340), Elevated serum creatine phosphokinase (HP:0003236), EMG: myopathic abnormalities (HP:0003458)	1	5	Pieter Klap
00073112	Fam5Pat15/III:2	PubMed: Walter 2007, Journal: Walter 2007	Pat15/III:2	F	-	Germany	-	>64y	-	-	-	SCPNK	Proximal muscle weakness in lower limbs (HP:0008994), Limb-girdle muscular dystrophy (HP:0006785), Arrhythmia (HP:0011675), Respiratory insufficiency (HP:0002093), Elevated serum creatine phosphokinase (HP:0003236), EMG: myopathic abnormalities (HP:0003458), Degenerative myopathy (HP:0003198)	1	1	Pieter Klap
00073119	15800015 II.3	PubMed: Bär 2005, Journal: Bär 2005	-	M	-	Germany	white	>55y	-	-	-	?	Exertional dyspnea (HP:0002875), Diaphragmatic paralysis (HP:0006597), Nocturnal hypoventilation (HP:0002877), Proximal muscle weakness in upper limbs (HP:0008997), Shoulder girdle muscle weakness (HP:0003547), Pelvic girdle muscle weakness (HP:0003749), Proximal muscle weakness in lower limbs (HP:0008994), Restrictive lung disease (HP:0002091), Left ventricular hypertrophy (HP:0001712), First degree atrioventricular block (HP:0011705), Ventricular arrhythmia (HP:0004308),	1	1	Pieter Klap
00073127	FamPatIII-1	PubMed: Arias 2006, Journal: Arias 2006	3-generation family, 8 affected (4F, 4M)	F	-	Spain	-	>45y	-	-	-	?	Distal muscle weakness (HP:0002460), Proximal muscle weakness (HP:0003701), Supraventricular arrhythmia (HP:0005115), EMG: myopathic abnormalities (HP:0003458), Elevated serum creatine phosphokinase (HP:0003236),	1	8	Pieter Klap
00073128	FamPatIII-2	PubMed: Arias 2006, Journal: Arias 2006	PatIII-2	M	-	Spain	-	>43y	-	-	-	?	Distal muscle weakness (HP:0002460), Proximal muscle weakness (HP:0003701), Elevated serum creatine phosphokinase (HP:0003236), Supraventricular arrhythmia (HP:0005115), dilated cardiomyopathy (HP:0001644), Stroke (HP:0001297), EMG: myopathic abnormalities (HP:0003458),	1	1	Pieter Klap
00073129	FamPatIII-7	PubMed: Arias 2006, Journal: Arias 2006	PatIII-7	F	-	Spain	-	>46y	-	-	-	?	Distal muscle weakness (HP:0002460), Proximal muscle weakness (HP:0003701), Elevated serum creatine phosphokinase (HP:0003236), normal ECG-H (-HP:0011675), normal echocardiogram (-HP:0003116), EMG: myopathic abnormalities (HP:0003458)	1	1	Pieter Klap
00073130	FamPatIV-1	PubMed: Arias 2006, Journal: Arias 2006	PatIV-1	?	-	Spain	-	-	-	-	-	?	Distal muscle weakness (HP:0002460), Elevated serum creatine phosphokinase (HP:0003236), normal ECG-H (-HP:0011675), normal echocardiogram (-HP:0003116), EMG: myopathic abnormalities (HP:0003458)	1	1	Pieter Klap
00073132	FamPatIV-3	PubMed: Arias 2006, Journal: Arias 2006	PatIV-3	?	-	Spain	-	-	-	-	-	?	Elevated serum creatine phosphokinase (HP:0003236), normal ECG-H (-HP:0011675), mild hypertrophic cardiomyopathy (HP:0001639),	1	1	Pieter Klap
00073732	-	Journal: Fatkin 2016	-	F	-	-	-	-	-	-	-	CDA	LVEF 0.36, skeletal myopathy (HP:0003756), implantable cardioverter-defibrillator	2	1	Johan den Dunnen
00128372	50	PubMed: Sahlin 2019, Journal: Sahlin 2019	stillbirth cohort (290 cases from Sweden)	M	-	Sweden	-	-	-	-	-	?	-	1	1	Ellika Sahlin
00128385	82	PubMed: Sahlin 2019, Journal: Sahlin 2019	stillbirth cohort (290 cases from Sweden)	M	-	Sweden	-	-	-	-	-	?	-	1	1	Ellika Sahlin
00128487	284	PubMed: Sahlin 2019, Journal: Sahlin 2019	stillbirth cohort (290 cases from Sweden)	M	-	Sweden	-	-	-	-	-	?	-	1	1	Ellika Sahlin
00163899	-	PubMed: Verhagen 2018, Journal: Verhagen 2018	-	M	-	Netherlands	Sub-Saharan African	-	-	yes	implantable cardiac defibrillator	CM	atrial fibrillation (HP:0005110), paroxysmal ventricular tachycardia (HP:0004751), first degree atrioventricular block (HP:0011705)	1	1	Judith Verhagen
00174801	Pat160a;A9(II2)	PubMed: Fichna 2018	2-generation family, 2 affected sisters, unaffected heterozygous carrier parents/	F	-	Poland	-	-	-	-	-	LGMD	onset overt symptoms adolescence; CPK raised 36x; limb-girdle weakness; generalized muscle atrophy, calf hypertrophy; ambulation preserved	1	2	Johan den Dunnen
00207987	23687351-FamPII4	PubMed: Cetin 2013	brother	M	yes	Turkey	-	>39y	-	-	-	LGMD	progressive muscle weakness; mild facial muscle weakness; normal CPK (-HP:0003236), no intellectual disability (-HP:0001249); 33y-lost ability to walk (HP:0006957)	1	1	Johan den Dunnen
00207988	23687351-FamPII2	PubMed: Cetin 2013	2-generation family, 2 affected, unaffected carrier parents and brother	F	yes	Turkey	-	>45y	-	-	-	LGMD	normal CPK (-HP:0003236)	1	3	Johan den Dunnen
00207989	Fam1-I.3	PubMed: Dalakas 2000	mother of Fam1-I.4	F	-	Canada	Ireland;Germany	-	-	-	-	MYOP	slowly progressive myopathy; normal CPK (-HP:0003236); 45y-lost ability to walk (HP:0006957)	1	1	Johan den Dunnen
00207990	?	PubMed: Taylor 2007	-	-	-	United States	-	-	-	-	-	?	6 unrelated subjects	1	6	Johan den Dunnen
00207991	?	PubMed: Taylor 2007	-	-	-	United States	-	-	-	-	-	Healthy/Control	-	1	2	Johan den Dunnen
00207992	-	PubMed: Goldfarb 1998, PubMed: Dalakas 2000	affects son CMS1	M	-	United States	-	-	-	-	-	MYOP	adult onset skeletal myopathy, mild cardiac involvement	1	1	Johan den Dunnen
00207993	-	PubMed: Goldfarb 1998, PubMed: Dalakas 2000	affected daugther CMS1	F	-	United States	-	-	-	-	-	MYOP	adult onset skeletal myopathy, mild cardiac involvement	1	1	Johan den Dunnen

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Global Variome shared LOVD

DES (desmin)