Disease #05310 (myotonia (myotonia))

Official abbreviation	myotonia
Name	myotonia
OMIM ID	-
Inheritance	Autosomal dominant, Autosomal recessive, Somatic mosaicism
Individuals reported having this disease	236
Phenotype entries for this disease	234
Associated with 0 genes	-
Associated tissues	-
Disease features	-
Remarks	-
Date created	2017-07-24 11:41:43 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

Individuals

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.

236 entries on 3 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3		Next ›	Last »

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
00111763	59278.1	Leiden, unpublished	-	M	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	6	3	Johan den Dunnen
00111769	60541.1	Leiden, unpublished	-	M	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	4	2	Johan den Dunnen
00111776	69683.1	Leiden, unpublished	2-generation family, affected father/daugther	F	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	9	2	Johan den Dunnen
00111785	56454.1	Leiden, unpublished	-	F	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	2	1	Johan den Dunnen
00111787	65671.1	Leiden, unpublished	-	F	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	3	1	Johan den Dunnen
00111799	56019.1	Leiden, unpublished	-	M	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	6	4	Johan den Dunnen
00111804	57416.1	Leiden, unpublished	-	F	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	4	1	Johan den Dunnen
00111810	59134.1	Leiden, unpublished	-	F	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	13	3	Johan den Dunnen
00111811	59134.10	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	18	1	Johan den Dunnen
00111814	60771.1	Leiden, unpublished	-	M	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	3	1	Johan den Dunnen
00111815	62671.1	Leiden, unpublished	-	M	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	12	1	Johan den Dunnen
00111816	62887.1	Leiden, unpublished	-	M	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	5	1	Johan den Dunnen
00111819	63605.1	Leiden, unpublished	-	F	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	12	1	Johan den Dunnen
00111820	63909.1	Leiden, unpublished	-	F	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	18	1	Johan den Dunnen
00111823	64992.1	Leiden, unpublished	-	F	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	5	1	Johan den Dunnen
00111824	65169.1	Leiden, unpublished	-	F	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	11	1	Johan den Dunnen
00111827	65940.1	Leiden, unpublished	-	M	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	16	2	Johan den Dunnen
00111829	66599.1	Leiden, unpublished	-	F	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	17	1	Johan den Dunnen
00111834	67835.1	Leiden, unpublished	-	M	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	6	1	Johan den Dunnen
00111836	68001.1	Leiden, unpublished	-	F	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	18	1	Johan den Dunnen
00111838	68178.1	Leiden, unpublished	-	M	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	9	1	Johan den Dunnen
00111839	68259.1	Leiden, unpublished	-	M	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	17	1	Johan den Dunnen
00111842	68795.1	Leiden, unpublished	-	F	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	15	1	Johan den Dunnen
00111848	72780.1	Leiden, unpublished	-	M	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	11	1	Johan den Dunnen
00111852	74316.1	Leiden, unpublished	-	F	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	12	2	Johan den Dunnen
00111855	75151.1	Leiden, unpublished	-	M	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	13	1	Johan den Dunnen
00111857	75484.1	Leiden, unpublished	-	M	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	10	2	Johan den Dunnen
00111861	77202.1	Leiden, unpublished	-	M	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	3	2	Johan den Dunnen
00111867	56516.1	Leiden, unpublished	-	M	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	9	1	Johan den Dunnen
00111868	56789.1	Leiden, unpublished	-	F	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	7	1	Johan den Dunnen
00111869	57944.1	Leiden, unpublished	-	F	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	6	1	Johan den Dunnen
00111870	65876.1	Leiden, unpublished	-	M	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	17	1	Johan den Dunnen
00111871	72551.1	Leiden, unpublished	-	M	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	19	1	Johan den Dunnen
00111883	66876.1	Leiden, unpublished	-	F	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	11	1	Johan den Dunnen
00111886	52549.1	Leiden, unpublished	-	M	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	2	1	Johan den Dunnen
00111887	75982.1	Leiden, unpublished	-	M	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	2	1	Johan den Dunnen
00111889	60431.1	Leiden, unpublished	-	F	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	3	1	Johan den Dunnen
00111893	50730.4	Leiden, unpublished	-	M	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	1	1	Johan den Dunnen
00111895	61159.1	Leiden, unpublished	-	F	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	12	1	Johan den Dunnen
00111896	62547.1	Leiden, unpublished	-	M	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	19	1	Johan den Dunnen
00111897	62699.1	Leiden, unpublished	-	M	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	17	1	Johan den Dunnen
00111898	63851.1	Leiden, unpublished	-	M	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	22	1	Johan den Dunnen
00111899	64807.1	Leiden, unpublished	-	M	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	20	1	Johan den Dunnen
00111900	66107.1	Leiden, unpublished	-	M	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	17	3	Johan den Dunnen
00111901	68243.1	Leiden, unpublished	-	M	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	22	1	Johan den Dunnen
00111902	69278.1	Leiden, unpublished	-	F	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	18	1	Johan den Dunnen
00111903	71931.1	Leiden, unpublished	-	F	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	13	1	Johan den Dunnen
00111904	73667.1	Leiden, unpublished	-	F	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	22	1	Johan den Dunnen
00111906	56199.1	Leiden, unpublished	-	M	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	1	1	Johan den Dunnen
00111910	62280.1	Leiden, unpublished	-	F	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	14	1	Johan den Dunnen
00111912	59871.1	Leiden, unpublished	-	M	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	14	1	Johan den Dunnen
00111917	67932.1	Leiden, unpublished	-	M	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	6	1	Johan den Dunnen
00111919	58258.1	Leiden, unpublished	-	M	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	9	1	Johan den Dunnen
00111920	53615.4	Leiden, unpublished	-	F	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	10	1	Johan den Dunnen
00111930	74740.1	Leiden, unpublished	-	M	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	4	1	Johan den Dunnen
00111932	59431.1	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	myotonia	Myotonia F	CLCN1	CLCN1	7	1	Johan den Dunnen
00111937	64306.1	Leiden, unpublished	-	M	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	8	1	Johan den Dunnen
00111947	73231.1	Leiden, unpublished	-	F	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	3	1	Johan den Dunnen
00111948	63723.1	Leiden, unpublished	-	M	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	2	1	Johan den Dunnen
00111949	55921.1	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	1	2	Johan den Dunnen
00111950	57546.1	Leiden, unpublished	-	M	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	2	1	Johan den Dunnen
00111952	71124.1	Leiden, unpublished	-	M	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	2	1	Johan den Dunnen
00111953	60589.1	Leiden, unpublished	-	M	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	2	1	Johan den Dunnen
00112801	21412952-Pat	PubMed: Kubota 2011, Journal: Kubota 2011	-	M	-	Japan	Japanese	-	-	-	-	myotonia	see paper; ..., sodium channel myotonia	SCN4A	SCN4A	1	1	Masanori Takahashi
00112973	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	myotonia	MF	SCN4A	SCN4A	1	1	Vincent Janmaat
00112974	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	myotonia	Myotonia F	SCN4A	SCN4A	4	1	Vincent Janmaat
00112984	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	myotonia	Myotonia F	SCN4A	SCN4A	3	1	Vincent Janmaat
00112989	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	myotonia	Myotonia F	SCN4A	SCN4A	3	1	Vincent Janmaat
00113095	-	Kuzmenkin [2003]	This is a polymorphism that does alter channel function but does not cause a disease. The entry into and the recovery are both slowed, these effect are opposing and are responsible for the benign fenotype of this polymorfism.	-	-	-	-	-	-	-	-	myotonia	Myotonia F	SCN4A	SCN4A	1	1	Vincent Janmaat
00154409	42910.1	Ginjaar, unpublished	-	-	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	1	1	Ieke Ginjaar
00154410	44495.1	Ginjaar, unpublished	-	-	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	1	1	Ieke Ginjaar
00154411	45475.1	Ginjaar, unpublished	-	-	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	2	1	Ieke Ginjaar
00154412	47954.1	Ginjaar, unpublished	-	-	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	2	1	Ieke Ginjaar
00154413	49558.2	Ginjaar, unpublished	-	-	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	2	1	Ieke Ginjaar
00154414	52176.1	Ginjaar, unpublished	-	-	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	2	1	Ieke Ginjaar
00154415	55642.1	Ginjaar, unpublished	-	-	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	2	1	Ieke Ginjaar
00154416	55642.2	Ginjaar, unpublished	-	-	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	2	1	Ieke Ginjaar
00154417	55921.2	Ginjaar, unpublished	-	-	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	1	1	Ieke Ginjaar
00154418	56019.3	Ginjaar, unpublished	-	-	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	1	1	Ieke Ginjaar
00154419	56019.5	Ginjaar, unpublished	-	-	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	1	1	Ieke Ginjaar
00154420	57983.4	Ginjaar, unpublished	-	-	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	2	1	Ieke Ginjaar
00154421	59134.5	Ginjaar, unpublished	-	-	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	2	1	Ieke Ginjaar
00154422	59278.2	Ginjaar, unpublished	-	-	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	2	1	Ieke Ginjaar
00154423	59278.5	Ginjaar, unpublished	-	-	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	2	1	Ieke Ginjaar
00154424	60541.3	Ginjaar, unpublished	-	-	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	2	1	Ieke Ginjaar
00154425	60589.3	Ginjaar, unpublished	-	-	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	1	1	Ieke Ginjaar
00154426	60589.4	Ginjaar, unpublished	-	-	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	1	1	Ieke Ginjaar
00154427	60589.6	Ginjaar, unpublished	-	-	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	1	1	Ieke Ginjaar
00154428	60589.9	Ginjaar, unpublished	-	-	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	1	1	Ieke Ginjaar
00154429	65940.1	Ginjaar, unpublished	-	-	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	2	1	Ieke Ginjaar
00154430	65940.2	Ginjaar, unpublished	-	-	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	2	1	Ieke Ginjaar
00154431	66107.2	Ginjaar, unpublished	-	-	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	2	1	Ieke Ginjaar
00154432	66107.4	Ginjaar, unpublished	-	-	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	2	1	Ieke Ginjaar
00154433	69683.2	Ginjaar, unpublished	-	-	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	1	1	Ieke Ginjaar
00154434	72695.1	Ginjaar, unpublished	-	-	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	2	1	Ieke Ginjaar
00154435	72695.2	Ginjaar, unpublished	-	-	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	2	1	Ieke Ginjaar
00154436	74316.2	Ginjaar, unpublished	-	-	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	2	1	Ieke Ginjaar
00154437	75484.2	Ginjaar, unpublished	-	-	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	1	1	Ieke Ginjaar
00154438	77202.2	Ginjaar, unpublished	-	-	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	1	1	Ieke Ginjaar
00154439	80062.1	Ginjaar, unpublished	-	-	-	Netherlands	-	-	-	-	-	myotonia	-	CLCN1	CLCN1	2	1	Ieke Ginjaar

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Global Variome shared LOVD

FKTN (fukutin)