Disease #01961 (myotonia congenita (AD) (myotonia congenita, autosomal recessive (Becker disease)), OMIM:255700)

Official abbreviation	myotonia congenita (AD)
Name	myotonia congenita, autosomal recessive (Becker disease)
OMIM ID	255700
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	98
Phenotype entries for this disease	97
Associated with 1 gene	CLCN1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2025-11-04 15:08:15 +01:00 (CET)

Individuals

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ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)

Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

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98 entries on 1 page. Showing entries 1 - 98.

Legend

How to query

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
00046514	M01	PubMed: Modoni 2011, Journal: Modoni 2011	-	-	-	(Italy)	-	-	-	-	-	myotonia congenita (AD)	see paper; transitory depression elictited 3 Hz RNS -57, ...	CLCN1	CLCN1	2	1	Johan den Dunnen
00080752	-	-	-	F	yes	Morocco	-	-	-	-	-	myotonia congenita (AD)	Muscular hypertrophy. Warm up	CLCN1	CLCN1	1	3	Carmen Palma
00080894	-	PubMed: Trujillano 2017	unaffected parents	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Myotonia congenita, recessive (OMIM:255700)	CLCN1	CLCN1	1	1	Daniel Trujillano
00081451	-	-	-	M	no	Spain	-	-	-	-	-	myotonia congenita (AD)	Myotonia with warm-up phenomenonMarked Marked muscular hypertrophy Myotonia EMG: myotonic runs Percussion myotonia	CLCN1	CLCN1	1	1	Carmen Palma
00081452	-	-	-	M	no	Greece	-	-	-	yes	-	myotonia congenita (AD)	-	CLCN1	CLCN1	3	1	Carmen Palma
00081454	-	-	-	M	no	Spain	-	-	-	-	-	myotonia congenita (AD)	EMG: myotonic runs Myotonia Myotonia with warm-up phenomenon	CLCN1	CLCN1	1	1	Carmen Palma
00111705	-	Brugnoni 1999	-	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00111706	-	Brugnoni 1999	-	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00111708	-	Chen 2000	It harbors a G-to-T transition at position +1 of the 5' donor splice site of intron 17.	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00111709	-	Chen 2000	-	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00111713	-	Colding-Jorgensen 2003	Partialliy dominant	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00111716	-	de Diego 1999	-	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00111720	-	Deymeer 1998	n.d.; severe ''dystrophic'' phenotpe together with 831 ins g,Pathogenicity debated	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	2	1	Johan den Dunnen
00111721	-	Deymeer 1998 ref func:Zhang 2000a	Slight shift of po; not dominant	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00111722	-	Esteban 1998	-	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00111727	-	George 1994; Meyer-Kleine 1995	-	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00111728	-	George 1994; Meyer-Kleine 1995 ref func:Zhang 2000a	Slight shift of po (15 mv)	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00111734	-	Heine 1994	-	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00111736	-	Heine 1994; Meyer-Kleine 1995; Mailander 1996 ref func:Fahlke 1995/ Pusch 1996	Inwardly rectifying	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00111738	-	Jou 2004	-	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker?	CLCN1	CLCN1	1	1	Johan den Dunnen
00111740	-	Jou 2004	-	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker?	CLCN1	CLCN1	1	1	Johan den Dunnen
00111742	-	Koch 1992; Koch 1993; Lorenz 1994; Meyer-Kleine 1995; Sloan Brown and George 1997; Papponen 1999	-	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00111745	-	Kubisch 1998 ref func:Kubisch 1998	recessive shift of po	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00111746	-	Kubisch 1998 ref func:Kubisch 1998	no expression	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00111749	-	Laboratory for Diagnostic Genome Analyses Leiden, unpublished	-	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00111765	59606.1	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	9	1	Johan den Dunnen
00111786	56458.1	Leiden, unpublished	-	M	-	Netherlands	-	-	-	-	-	myotonia congenita (AD)	-	CLCN1	CLCN1	8	1	Johan den Dunnen
00111807	58032.1	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	8	1	Johan den Dunnen
00111812	59606.2	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	4	1	Johan den Dunnen
00111872	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00111873	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00111884	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00111891	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00111907	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00111908	57983.1	Leiden, unpublished	-	F	-	Netherlands	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	4	2	Johan den Dunnen
00111911	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00111914	58741.2	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00111915	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00111916	53779.1	Leiden, unpublished	hom	M	-	Netherlands	-	-	-	-	-	myotonia congenita (AD)	-	CLCN1	CLCN1	1	1	Johan den Dunnen
00111918	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00111941	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00111943	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00111955	-	Lorenz 1994; Meyer-Kleine 1994; Lehmann-Horn 1995; Meyer-Kleine 1995	-	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00111956	-	Lorenz 1994; Meyer-Kleine 1995	-	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00111957	-	Lorenz 1994; Meyer-Kleine 1995 ref func:Pusch 1995b	Dominant shift of po	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00111958	-	Mailander 1996	-	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00111962	-	Mailander 1996 ref func:Wollnik 1997	like WT, pathogenicity debated	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	2	1	Johan den Dunnen
00111964	-	Mailander 1996 ref func:Wollnik 1997	like WT, Pathogenicity debated	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00111965	-	Mailander 1996 ref func:Zhang 2000a	Slight shift of po (20mV)	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00111968	-	Meyer-Kleine 1995	-	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00111971	-	Meyer-Kleine 1995	-	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00111973	-	Meyer-Kleine 1995	-	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00111975	-	Meyer-Kleine 1995	-	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00111979	-	Meyer-Kleine 1995 ref func:Lorenz 1994	Presumably nonfunctional	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00111980	-	Meyer-Kleine 1995 ref func:Pusch 1995b;	No functional expression; not dominant negative	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00111981	-	Meyer-Kleine 1995 ref func:Wollnik 1997	Reduced ''gamma''; altered gating, not dominant negative n.d.	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00111982	-	Meyer-Kleine 1995 ref func:Zhang 2000a	Slight shift of po (15 mv)	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00111984	-	Meyer-Kleine 1995; Kubisch 1998	-	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00111985	-	Nagamitsu 2000	mRNA is degraded	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00111989	-	Papponen 1999 ref func:Zhang 2000b	Inwardly rectifying similar to D136G	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00111990	-	Plassart-Schiess 1998	-	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00111994	-	Plassart-Schiess 1998	-	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00111997	-	Sangiuolo 1997	-	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00111999	-	Sangiuolo 1997	-	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00112000	-	Sangiuolo 1997	-	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00112002	-	Sangiuolo 1997 ref func:Kubisch 1998; Saviane 1999	-	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00112003	-	Sangiuolo 1997 ref func:Steinmeyer 1994; Pusch 1995b	Ne espression by itself by dominant shift of po	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00112007	-	Sasaki 1999	-	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00112009	-	Sasaki 1999	-	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00112013	-	Sejersen 1996	-	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00112024	-	Sun 2001	-	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker?	CLCN1	CLCN1	1	1	Johan den Dunnen
00112032	-	Sun 2001	warm up effect	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00112033	-	Sun 2001; Warnstedt 2002	-	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00112035	-	Wu 2002	-	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00112040	-	Zhang 1996	-	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00112042	-	Zhang 2000b ref func:Lorenz 1994; Pusch 1995b	No functional espression, not dominant negative	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Johan den Dunnen
00112054	-	-	-	M	-	Italy	-	-	-	-	-	myotonia congenita (AD)	Biecker	CLCN1	CLCN1	1	1	Raffaella Brugnoni
00112057	-	-	-	M	-	Ethiopia	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	3	1	Raffaella Brugnoni
00112064	-	-	-	M	-	(Peru)	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Raffaella Brugnoni
00112072	-	-	-	M	-	Italy	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	2	1	Raffaella Brugnoni
00112073	-	-	-	F	-	Italy	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	2	1	Raffaella Brugnoni
00112074	-	-	-	M	-	Italy	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	2	1	Raffaella Brugnoni
00112076	-	-	-	M	-	Italy	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Raffaella Brugnoni
00112077	-	-	-	M	-	Italy	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	2	1	Raffaella Brugnoni
00112083	-	-	-	F	-	Italy	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	2	1	Raffaella Brugnoni
00112090	-	-	-	M	no	Italy	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	2	1	Raffaella Brugnoni
00112091	-	-	-	M	-	(Peru)	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Raffaella Brugnoni
00112097	-	-	-	M	-	Italy	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	2	1	Raffaella Brugnoni
00112098	-	-	-	F	-	Italy	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	2	1	Raffaella Brugnoni
00112124	-	-	-	M	-	Italy	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	2	1	Raffaella Brugnoni
00112127	-	-	-	M	-	Italy	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Raffaella Brugnoni
00112129	-	-	-	F	-	Italy	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	2	1	Raffaella Brugnoni
00112131	-	-	-	M	-	Italy	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	1	1	Raffaella Brugnoni
00112132	-	-	-	M	?	Italy	-	-	-	-	-	myotonia congenita (AD)	Becker	CLCN1	CLCN1	2	1	Raffaella Brugnoni
00132086	-	-	-	-	-	Germany	-	-	-	-	-	myotonia congenita (AD)	-	CLCN1	CLCN1	1	1	Gemeinschaftspraxis für Humangenetik Dresden
00392563	188465	-	-	M	no	Germany	-	-	-	-	-	myotonia congenita (AD)	Myopathy, Skeletal muscle hypertrophy, Global developmental delay, Delayed speech and language development, Abnormality of the neck, Myotonia with warm-up phenomenon; Climbing stairs difficult possible up stairs, down stairs much better, no muscle weakness, warm up phenomenon, jaw and tongue muscles also affected, low hairline, broad neck, below average learning and performance abilities, speech disorder, CK normal.	CLCN1	CLCN1	2	1	Andreas Laner
00411583	Pat41	PubMed: Brugnoni 2022, Journal: Brugnoni 2022	-	F	no	Italy	-	-	-	-	-	myotonia congenita (AD)	myotonia; EMG myotonia; no warm-up phenomenon/paradoxical myotonia; no muscle weakness; no muscle hypertrophy; myopathy not painful; no episodic paralysis	CLCN1, SCN4A	CLCN1, SCN4A	2	4	Raffaella Brugnoni
00412179	Raffaella Brugnoni	-	-	M	no	Italy	-	-	-	-	-	myotonia congenita (AD)	-	CLCN1	CLCN1	2	1	Raffaella Brugnoni

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Global Variome shared LOVD

KCNH2 (potassium voltage-gated channel, subfamily H...)