All individuals with variants in gene COLQ

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.

100 entries on 1 page. Showing entries 1 - 100.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00035418	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035419	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035420	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected HMSN II , progressive sensory disturbances and weakness in legs,bilateral dorsal flexor disturbance since 3 years; currently prickling in fingertips and dysfunctional fine motor skills; MGZ#71993: suspected CMS, global developmental delay, muskular hypotonia, intermittend ptosis and dysfunktion of ocular movement, status post febrile convulsion	1	1	Andreas Laner
00035421	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035422	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected CMS	1	1	Andreas Laner
00035423	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035424	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035425	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected CMS	1	1	Andreas Laner
00035426	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected MDS; suspected defect of COLQ	1	1	Andreas Laner
00035427	-	-	-	-	-	Germany	-	-	-	-	-	?	floppy infant, neonatal rez. apnea, critical apnea and myasthenia after temperature rise, transport and anesthesia; Arthrogryposis; family history: parents consanguine from Arabia	1	1	Andreas Laner
00080810	-	PubMed: Trujillano 2017	unaffected parents	-	-	-	-	-	-	-	-	CMS5;EAD	Myasthenic syndrome, congenital, 5 (OMIM:603034)	1	1	Daniel Trujillano
00080906	-	PubMed: Trujillano 2017	no information from parents	-	-	-	-	-	-	-	-	CMS5;EAD	Myasthenic syndrome, congenital, 5 (OMIM:603034)	1	1	Daniel Trujillano
00081045	-	PubMed: Trujillano 2017	unaffected parents	-	-	-	-	-	-	-	-	CMS5;EAD	Myasthenic syndrome, congenital, 5 (OMIM:603034)	1	1	Daniel Trujillano
00205291	-	PubMed: Ohno 1998	-	-	-	United States	-	-	-	-	-	CMS	-	2	2	Johan den Dunnen
00205292	-	PubMed: Ohno 1998	-	-	-	United States	-	-	-	-	-	CMS	-	2	2	Johan den Dunnen
00205293	-	PubMed: Ohno 1998	-	-	-	United States	-	-	-	-	-	CMS	-	3	2	Johan den Dunnen
00205294	-	PubMed: Ohno 1998	-	-	-	United States	-	-	-	-	-	CMS	-	2	2	Johan den Dunnen
00205295	-	PubMed: Ohno 1998	carrier mother and borther	-	-	United States	-	-	-	-	-	CMS	-	2	2	Johan den Dunnen
00205296	-	PubMed: Donger 1998	2-generation family, 14 children, 6 affecteds (2F, 4M)	-	-	Spain	-	-	-	-	-	CMS	-	2	7	Johan den Dunnen
00205297	-	PubMed: Shapira 2002	4-generation family, 2 affecteds (F, M)	-	-	Palestine	Arab	-	-	-	-	CMS	-	2	4	Johan den Dunnen
00205298	-	PubMed: Ohno 2000	-	-	-	United States	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00205299	-	PubMed: Ohno 2000	-	-	-	United States	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00205300	-	PubMed: Ohno 2000	-	-	-	United States	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00205301	-	PubMed: Muller 2004, PubMed: Mihaylova 2008	2-generation family, 2 affecteds; sister of 15248101-Fam1Pat1	F	-	Germany	-	-	-	-	-	CMS	-	6	1	Angela Abicht
00205302	-	PubMed: Ohno 2000	-	-	-	United States	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00205303	-	PubMed: Ohno 2000	-	-	-	United States	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00205304	-	PubMed: Ohno 2000	-	-	-	United States	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00205305	-	PubMed: Ohno 2000	-	-	-	United States	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00205306	-	PubMed: Shapira 2002	-	M	-	Italy	-	-	-	-	-	CMS	-	2	2	Johan den Dunnen
00205307	-	PubMed: Ohno 1998	-	-	-	United States	-	-	-	-	-	CMS	-	2	2	Johan den Dunnen
00205308	-	PubMed: Shapira 2002	3-generation family, first cousin marriage	F	-	Palestine	Arab	-	-	-	-	CMS	-	2	2	Johan den Dunnen
00205309	-	Pat5 in PubMed: Hutchinson 1993	-	M	-	United States	-	-	-	-	-	CMS	-	3	2	Johan den Dunnen
00205310	-	Pat3 in PubMed: Hutchinson 1993	-	M	-	United States	-	-	-	-	-	CMS	-	2	2	Johan den Dunnen
00205311	-	PubMed: Kimbell 2004	-	-	-	United States	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00205312	-	PubMed: Muller 2004, PubMed: Mihaylova 2008	2-generation family, 2 affecteds; brother of 15248101-Fam1Pat2	M	-	Germany	-	-	-	-	-	CMS	-	6	1	Angela Abicht
00205313	-	PubMed: Schreiner 2007	2-generation family, 2 affecteds; brother of 17300939-Pat2	M	-	Germany	-	-	-	-	-	CMS	-	2	2	Johan den Dunnen
00205314	-	PubMed: Mihaylova 2008	-	F	-	Lebanon	-	-	-	-	-	CMS	mild	2	1	Angela Abicht
00205315	-	PubMed: Mihaylova 2008	-	M	-	Serbia	-	-	-	-	-	CMS	mild	2	1	Angela Abicht
00205316	-	PubMed: Mihaylova 2008	-	M	-	Germany	-	-	-	-	-	CMS	severe	2	1	Angela Abicht
00205317	-	PubMed: Mihaylova 2008	-	F	-	Saudi Arabia	-	-	-	-	-	CMS	moderate	2	1	Angela Abicht
00205318	-	PubMed: Mihaylova 2008	-	F	-	Spain	-	-	-	-	-	CMS	severe	2	1	Angela Abicht
00205319	-	PubMed: Mihaylova 2008	-	M	-	Spain	-	-	-	-	-	CMS	moderate	2	1	Johan den Dunnen
00205320	-	PubMed: Mihaylova 2008	-	F	-	Pakistan	-	-	-	-	-	CMS	moderate	2	1	Angela Abicht
00205321	-	PubMed: Mihaylova 2008	-	M	-	Italy	-	-	-	-	-	CMS	severe	2	1	Johan den Dunnen
00205322	-	PubMed: Mihaylova 2008	-	M	-	Saudi Arabia	-	-	-	-	-	CMS	severe	2	1	Angela Abicht
00205323	-	PubMed: Mihaylova 2008	-	M	-	Czech Republic	-	-	-	-	-	CMS	mild	2	1	Angela Abicht
00205324	-	PubMed: Schreiner 2007	grandfather in family	M	-	Germany	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00205325	-	PubMed: Ohno 1998	3-generation family, 3 affecteds (F, 2F)	-	-	United States	-	-	-	-	-	CMS	-	2	4	Johan den Dunnen
00205326	-	PubMed: Shapira 2002	-	F	-	Iraq	Jewish	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00205327	-	PubMed: Mihaylova 2008	-	F	-	Turkey	-	-	-	-	-	CMS	mild	2	1	Johan den Dunnen
00205328	-	PubMed: Mihaylova 2008	younger sister of 17300939-Pat1	F	no	Germany	-	>5y	-	-	-	CMS	moderate; gross motor development delayed, poor facial mimics, repeated episodes acute respiratory distress, edrophonium test negative; 5y-climb stairs at hand	2	1	Angela Abicht
00205329	-	PubMed: Mihaylova 2008	older brother of 17300939-Pat2	M	no	Germany	-	3y	-	-	-	CMS	severe; 2w-opened eyes; early infancy delayed gross motor development, muscular weakness, myopathic facies, external ophthalmoplegia, episodes of deteriorating muscular strength during febrile infections; 3y-died after developing fulminant sepsis and acute respiratory insufficiency	2	1	Angela Abicht
00205330	-	-	-	F	-	United States	-	-	-	-	-	CMS	-	2	1	Tom Winder
00205331	-	PubMed: Ohno 2000	asymptomatic mother 10665486-Pat3	-	-	United States	-	-	-	-	-	?	repetitive CMAP in response single nerve stimulus	1	1	Johan den Dunnen
00205332	-	PubMed: Muller 2004, PubMed: Mihaylova 2008	-	F	-	Germany	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00205333	-	PubMed: Mihaylova 2008	-	F	-	Germany	-	-	-	-	-	CMS	mild	2	1	Angela Abicht
00205334	-	PubMed: Mihaylova 2008	-	F	-	Spain	-	-	-	-	-	CMS	mild	2	1	Johan den Dunnen
00205335	-	PubMed: Mihaylova 2008	-	M	-	Spain	-	-	-	-	-	CMS	mild	2	1	Johan den Dunnen
00205336	-	PubMed: Mihaylova 2008	-	F	-	Spain	-	-	-	-	-	CMS	mild	2	1	Johan den Dunnen
00205337	-	PubMed: Mihaylova 2008, PubMed: Mihaylova 2010	-	M	-	India	African	-	-	-	-	CMS	moderate	2	1	Angela Abicht
00205338	-	PubMed: Mihaylova 2008	-	F	-	Pakistan	-	-	-	-	-	CMS	mild	2	1	Angela Abicht
00205339	-	PubMed: Mihaylova 2008	-	F	-	Italy	-	-	-	-	-	CMS	moderate	2	1	Johan den Dunnen
00205340	-	PubMed: Mihaylova 2008	-	F	-	Turkey	-	-	-	-	-	CMS	severe	2	1	Angela Abicht
00205341	-	PubMed: Mihaylova 2008	-	F	-	Hungary	-	-	-	-	-	CMS	severe	2	1	Angela Abicht
00205342	-	PubMed: Schreiner 2007	2-generation family, 2 affecteds; siser of 17300939-Pat1	F	-	Germany	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00205343	-	PubMed: Yueng 2010	family, 2 affected siblings (M)	M	-	China	-	-	-	-	-	CMS	-	2	2	Johan den Dunnen
00205344	-	PubMed: Schreiner 2007	mother and brother of 17300939-Pat1/2	F	-	Germany	-	-	-	-	-	Healthy/Control	-	1	2	Angela Abicht
00205345	-	PubMed: Schreiner 2007	grandmother of 17300939-Pat1/2	F	-	Germany	-	-	-	-	-	?	ptosis improved during childhood, still detectable in adulthood; 60y-ptosis worsened	1	1	Angela Abicht
00205346	-	PubMed: Schreiner 2007	father of 17300939-Pat1/2	M	-	Germany	-	-	-	-	-	?	ptosis improved during childhood, still detectable in adulthood	1	1	Angela Abicht
00205347	-	-	-	-	-	Germany	-	-	-	-	-	CMS	-	2	1	Angela Abicht
00205348	-	-	-	-	-	Germany	-	-	-	-	-	CMS	-	2	1	Angela Abicht
00205349	-	-	-	-	-	Germany	-	-	-	-	-	CMS	-	2	1	Angela Abicht
00205350	-	-	-	-	-	Germany	-	-	-	-	-	CMS	-	2	1	Angela Abicht
00205351	-	-	-	-	-	Germany	-	-	-	-	-	CMS	-	2	1	Angela Abicht
00205352	-	-	-	-	-	Germany	-	-	-	-	-	CMS	-	2	1	Angela Abicht
00205353	-	-	-	-	-	Germany	-	-	-	-	-	CMS	-	2	1	Angela Abicht
00205354	-	-	-	-	-	Germany	-	-	-	-	-	CMS	-	2	1	Angela Abicht
00205355	-	-	-	-	-	Germany	-	-	-	-	-	CMS	-	2	1	Angela Abicht
00205356	-	-	-	-	-	Germany	-	-	-	-	-	CMS	-	2	1	Angela Abicht
00205357	-	-	-	-	-	Germany	-	-	-	-	-	CMS	-	2	1	Angela Abicht
00205358	-	-	-	-	-	Germany	-	-	-	-	-	CMS	-	2	1	Angela Abicht
00205359	-	-	-	M	?	Syria	Arab	-	-	-	-	CMS	muscle weakness of proximal distribution. scoliosis. vent-dependent.	1	1	Tom Winder
00205360	-	-	-	-	-	United States	Hispanic	-	-	-	-	CMS	-	1	1	Tom Winder
00205361	-	-	-	F	-	Syria	Arab	-	-	-	-	CMS	bilateral ptosis, muscle weakness, delayed walking; Pat2/Pat7	1	2	Tom Winder
00205362	-	-	-	F	-	Saudi Arabia	Arab	-	-	-	-	CMS	-	1	1	Tom Winder
00205363	-	PubMed: Nakata 2013	-	M	-	Japan	-	-	-	-	-	CMS	walk 19m	2	1	Mikako Ito
00205364	-	PubMed: Nakata 2013	-	M	-	Japan	-	-	-	-	-	CMS	walk 2y	1	1	Mikako Ito
00205365	-	PubMed: Nakata 2013	-	-	-	Japan	-	-	-	-	-	CMS	walk 18m	2	1	Mikako Ito
00205366	-	-	-	F	?	United States	Hispanic	-	-	-	-	CMS	-	1	1	Tom Winder
00228273	-	-	-	?	-	-	-	-	-	-	-	?	Fatigable weakness (HP:0003473); Muscular dystrophy (HP:0003560); Delayed speech and language development (HP:0000750)	1	1	IMGAG
00293251	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	13	Mohammed Faruq
00293252	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	4	Mohammed Faruq
00314187	-	PubMed: Topf 2020	analysis 1001 patients with unexplained limb-girdle weakness	-	-	-	-	-	-	-	-	LGMD	-	1	2	Johan den Dunnen
00314188	-	PubMed: Topf 2020	analysis 1001 patients with unexplained limb-girdle weakness	-	-	-	-	-	-	-	-	LGMD	-	1	2	Johan den Dunnen
00316025	Fam1PatII1	PubMed: Zaharieva 2016	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	no	United Kingdom (Great Britain)	white	-	-	-	-	?	see paper; ..., fetal reduced movements, breech presentation; birth moderate to severe congenital hypotonia, weak cry, thin muscle build, talipes, tube fed first 12 days, ongoing difficulties with suck during infancy but able to bottle feed; mild facial weakness, high arched palate, elongated face, neck flexion and axial weakness; limb weakness PUL ++, DUL +, PLL +++, DLL ++, weakest muscle groups neck flexors, axial muscles, hip extensors, abductors; generalized muscle atrophy most marked in shoulders; 2y-oromotor difficulties resolved; 2y-hip, knee and Achilles tendon contractures; delayed motor milestones, walk2y9m, jump-3-4y, run-3-4y (slowly); childhood: frequent falls, positive Gowers’ sign, ongoing improvements in strength and motor skills over time14y-still ambulant (500 m) with slow waddling gait, 4y-uses splints, K-walker and manual wheelchair for longer distances; 3y9m-mild ophthalmoplegia (upgaze weakness) noted, large asymmetrical dolichocephalic head shape, frontal bossing, micrognathia; 2y-scoliosis, spinal rigidity; 12y-spinal fusion for scoliosis; 6y-BIPAP required, 13y10m FVC 0.44; pes planus childhood; height initially 50th percentile fell to 2–10th percentile 13y10m (in part due to scoliosis); hypermobility; mild asymmetrical pectus excavatum; 12y-short-lived episodic weakness during febrile illnesses, post-exercise and on hot days; 13y-activity-limiting increase in fatigability, fatigues quickly with walking and writing; improved strength endurance with regular oral salbutamol	1	1	Johan den Dunnen
00399004	P29	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	muscle biopsy internal nuclei 0.80 fibers; proximal muscle weakness in upper and lower limbs	1	1	Johan den Dunnen
00399058	P123	PubMed: Gonzalez-Quereda 2020	patient	F	-	Spain	-	-	-	-	-	NMD	serum CK <200 U/L; muscle biopsy fiber size variability; fatigability	2	1	Johan den Dunnen
00406642	12	-	-	F	-	-	-	-	-	-	-	CMS5;EAD	-	2	1	Martin Krenn
00406653	23	-	-	F	-	-	-	-	-	-	-	CMS5;EAD	-	1	1	Martin Krenn
00443936	-	-	sibling 00443936	M	?	Argentina	-	-	-	-	salbutamol	CMS5;EAD	HP:0000508 Ptosis HP:0003473 Fatigable weakness HP:0002643 Neonatal respiratory distress	1	2	María Eugenia Foncuberta

Legend

How to query

Global Variome shared LOVD

COLQ (collagen-like tail subunit (single strand of...))