Global Variome shared LOVD
COL6A1 (collagen, type VI, alpha 1)
LOVD v.3.0 Build 28 [
Current LOVD status
]
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Curator:
Johan den Dunnen
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View all diseases associated with gene COL6A1
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All individuals with variants in gene COL6A1
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.
771 entries on 8 pages. Showing entries 1 - 100.
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Legend
How to query
« First
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Individual ID
ID_report
Reference
Remarks
Gender
Consanguinity
Country
Population
Age at death
VIP
Data_av
Treatment
Disease
Phenotype details
Variants
Panel size
Owner
00035383
-
-
-
-
-
Germany
-
-
0
-
-
MYOP
myopathia since the forth year of life, tetralogy of Fallot
1
1
Andreas Laner
00035384
-
-
-
-
-
Germany
-
-
0
-
-
MYOP
myopathia since the forth year of life, tetralogy of Fallot
1
1
Andreas Laner
00035385
-
-
-
-
-
Germany
-
-
0
-
-
MYOP
myopathia since the forth year of life, tetralogy of Fallot
1
1
Andreas Laner
00035386
-
-
-
-
-
Germany
-
-
0
-
-
MYOP
myopathia since the forth year of life, tetralogy of Fallot
1
1
Andreas Laner
00035387
-
-
-
-
-
Germany
-
-
0
-
-
-
-
1
1
Andreas Laner
00035388
-
-
-
-
-
Germany
-
-
0
-
-
MYOP
myopathia since the forth year of life, tetralogy of Fallot
1
1
Andreas Laner
00035389
-
-
-
-
-
Germany
-
-
0
-
-
MYOP
myopathia since the forth year of life, tetralogy of Fallot
1
1
Andreas Laner
00035390
-
-
-
-
-
Germany
-
-
0
-
-
-
-
1
1
Andreas Laner
00035391
-
-
-
-
-
Germany
-
-
0
-
-
-
-
1
1
Andreas Laner
00035392
-
-
-
-
-
Germany
-
-
0
-
-
-
-
1
1
Andreas Laner
00035393
-
-
-
-
-
Germany
-
-
0
-
-
-
-
1
1
Andreas Laner
00035394
-
-
-
-
-
Germany
-
-
0
-
-
-
-
1
1
Andreas Laner
00035395
-
-
-
-
-
Germany
-
-
0
-
-
-
-
1
1
Andreas Laner
00035396
-
-
-
-
-
Germany
-
-
0
-
-
-
-
1
1
Andreas Laner
00035397
-
-
-
-
-
Germany
-
-
0
-
-
-
-
1
1
Andreas Laner
00035398
-
-
-
-
-
Germany
-
-
0
-
-
-
-
1
1
Andreas Laner
00035399
-
-
-
-
-
Germany
-
-
0
-
-
-
-
1
1
Andreas Laner
00035400
-
-
-
-
-
Germany
-
-
0
-
-
-
-
1
1
Andreas Laner
00035401
-
-
-
-
-
Germany
-
-
0
-
-
-
-
1
1
Andreas Laner
00035402
-
-
-
-
-
Germany
-
-
0
-
-
-
-
1
1
Andreas Laner
00035403
-
-
-
-
-
Germany
-
-
0
-
-
-
-
1
1
Andreas Laner
00035404
-
-
-
-
-
Germany
-
-
0
-
-
-
-
1
1
Andreas Laner
00035405
-
-
-
-
-
Germany
-
-
0
-
-
-
-
1
1
Andreas Laner
00035406
-
-
-
-
-
Germany
-
-
0
-
-
-
-
1
1
Andreas Laner
00035407
-
-
-
-
-
Germany
-
-
0
-
-
-
-
1
1
Andreas Laner
00035408
-
-
-
-
-
Germany
-
-
0
-
-
-
-
1
1
Andreas Laner
00035409
-
-
-
-
-
Germany
-
-
0
-
-
-
-
1
1
Andreas Laner
00035410
-
-
-
-
-
Germany
-
-
0
-
-
-
-
1
1
Andreas Laner
00035411
-
-
-
-
-
Germany
-
-
0
-
-
-
-
1
1
Andreas Laner
00035412
-
-
-
-
-
Germany
-
-
0
-
-
-
-
1
1
Andreas Laner
00035413
-
-
-
-
-
Germany
-
-
0
-
-
-
-
1
1
Andreas Laner
00035414
-
-
-
-
-
Germany
-
-
0
-
-
-
-
1
1
Andreas Laner
00035415
-
-
-
-
-
Germany
-
-
0
-
-
-
-
1
1
Andreas Laner
00035416
-
-
-
-
-
Germany
-
-
0
-
-
-
-
1
1
Andreas Laner
00035417
-
-
-
-
-
Germany
-
-
0
-
-
-
-
1
1
Andreas Laner
00054696
-
PubMed: O'Grady 2016
-
M
-
Australia
-
>15y
0
-
-
MDC
weakness, hypermobility and distal laxity; CPK mild elevation (265-306); histology dystrophic
1
1
Sandra Cooper
00054697
Pat62
PubMed: O'Grady 2016
-
F
-
Australia
-
>14y
0
-
-
MDC
proximal weakness, distal laxity, round face, prominent heels and hyperkeratosis pilaris; CPK mild elevation (395); IHC COLVI; histology dystrophic
1
1
Shireen Lamandé
00054701
Pat70
PubMed: O'Grady 2016
2-generation family, unaffected heterozygous carrier parents
M
-
Australia
-
>12y
0
-
-
MDC
infantile onset, gross motor delay, distal laxity, contractures, hyperkeratosis pilaris, prominent heels; CPK mild elevation (245); IHC COLVI; histology dystrophic
1
1
Shireen Lamandé
00054704
Pat94
PubMed: O'Grady 2016
2-generation family, unaffected heterozygous carrier parents
M
-
Australia
-
>12y
0
-
-
MDC
gross motor delay, hypermobility, distal laxity, contractures, malar flush, restrictive lung disease; CPK mild elevation (245); IHC COLVI; histology dystrophic
1
1
Shireen Lamandé
00054705
Pat100
PubMed: O'Grady 2016
-
M
-
Australia
-
>9y
0
-
-
MDC
infantile hypotonia and weakness, gross motor delay, walked age 20mo, mild facial weakness, distal laxity, contractures, hyperkeratosis pilaris, finger flexor contractures; CPK mild elevation (419); IHC COLVI; histology dystrophic
1
1
Shireen Lamandé
00054707
Pat105
PubMed: O'Grady 2016
-
F
-
Australia
-
>11y
0
-
-
MDC
infantile hypotonia, omphalocoele, gross motor delay, walked age 2y, mild facial weakness, distal laxity, contractures; CPK mild elevation (254); IHC COLVI; histology dystrophic
1
1
Shireen Lamandé
00054708
Pat111
PubMed: O'Grady 2016
-
F
-
Australia
-
>5y
0
-
-
MDC
infantile hypotonia, arthrogryposis, congenital hip dysplasia, gross motor delay, contractures, hyperkeratosis pilaris, prominent heels, hypertrophic scarring; CPK mild elevation (338); IHC COLVI; histology dystrophic
1
1
Shireen Lamandé
00054709
Pat118
PubMed: O'Grady 2016
-
F
-
Australia
-
>9y
0
-
-
MDC
infantile hypotonia, gross motor delay, non-ambulant, distal laxity, contractures, scoliosis, hyperkeratosis; CPK mild elevation (415)
1
1
Shireen Lamandé
00108711
MYO-SEQ Pat12
MYO-SEQ project, UK
-
M
no
United Kingdom (Great Britain)
-
-
0
-
-
BTHLM1
-
2
1
Alison Blain
00108717
MYO-SEQ Pat18
MYO-SEQ project, UK
-
F
?
United Kingdom (Great Britain)
-
-
0
-
-
BTHLM1
-
1
1
Alison Blain
00108723
MYO-SEQ Pat23
MYO-SEQ project, UK
-
F
no
United Kingdom (Great Britain)
-
-
0
-
-
BTHLM1
-
1
1
Alison Blain
00108726
MYO-SEQ Pat26
MYO-SEQ project, UK
-
F
no
United Kingdom (Great Britain)
-
-
0
-
-
BTHLM1
-
1
1
Alison Blain
00108732
MYO-SEQ Pat31
MYO-SEQ project, UK
-
F
?
United Kingdom (Great Britain)
-
-
0
-
-
BTHLM1
-
1
1
Alison Blain
00108733
MYO-SEQ Pat32
MYO-SEQ project, UK
-
F
?
United Kingdom (Great Britain)
-
-
0
-
-
BTHLM1
-
1
1
Alison Blain
00108737
MYO-SEQ Pat36
MYO-SEQ project, UK
-
M
?
United Kingdom (Great Britain)
-
-
0
-
-
BTHLM1
-
1
1
Alison Blain
00108739
MYO-SEQ Pat5
MYO-SEQ project, UK
-
M
?
United Kingdom (Great Britain)
-
-
0
-
-
BTHLM1
-
1
1
Alison Blain
00108740
MYO-SEQ Pat6
MYO-SEQ project, UK
2-generation family, affected father and 2 sons
M
?
United Kingdom (Great Britain)
-
-
0
-
-
BTHLM1
-
1
3
Alison Blain
00108745
?
PubMed: Lampe 2005
-
-
-
-
-
-
0
-
-
BTHLM1
-
1
1
Johan den Dunnen
00108746
?
PubMed: Scacheri 2002
4 generation family, 12 affecteds
-
-
United States
white
-
0
-
-
MDC
LGMD-AD, infantile onset 6 patients
1
12
Johan den Dunnen
00108747
?
PubMed: Lampe 2005
-
-
-
-
-
-
0
-
-
BTHLM1
-
1
1
Johan den Dunnen
00108748
P13
PubMed: Lucioli 2005
-
-
-
-
-
-
0
-
-
BTHLM1
-
1
1
Anne Lampe
00108749
?
PubMed: Lampe 2005
-
-
-
-
-
-
0
-
-
BTHLM1
-
1
1
Johan den Dunnen
00108750
?
PubMed: LamandÈ 1999
-
M
-
-
-
-
0
-
-
BTHLM1
-
1
1
Johan den Dunnen
00108751
?
PubMed: Pan 2003
-
M
-
-
-
-
0
-
-
BTHLM1
-
1
1
Johan den Dunnen
00108752
P10
PubMed: Lucioli 2005
unrelated patients
-
-
-
-
-
0
-
-
BTHLM1
-
1
1
Anne Lampe
00108753
?
PubMed: Pepe 1999
3 generation family, affected mother and grandfather
-
-
-
-
-
0
-
-
BTHLM1
-
1
3
Johan den Dunnen
00108754
P3
PubMed: Giusti 2005
-
-
-
Italy
-
-
0
-
-
UCMD
-
2
1
Anne Lampe
00108755
?
PubMed: Lampe 2005
-
-
-
-
-
-
0
-
-
BTHLM1
-
1
1
Johan den Dunnen
00108756
?
PubMed: Lampe 2005
heterozygous parents
-
-
-
-
-
0
-
-
UCMD
-
1
1
Johan den Dunnen
00108757
P2
PubMed: Giusti 2005
-
-
-
Turkey
-
-
0
-
-
UCMD
-
1
1
Anne Lampe
00108758
?
PubMed: Lampe 2005
-
-
-
-
-
-
0
-
-
BTHLM1
mild
1
3
Johan den Dunnen
00108759
?
PubMed: Scacheri 2002
large 4 generation family
-
-
United States
white
-
0
-
-
LGMD1
LGMD-AD
1
1
Johan den Dunnen
00108760
?
PubMed: Vanegas 2002
4 generation family
-
-
Italy
-
-
0
-
-
BTHLM1
mild
1
1
Johan den Dunnen
00108761
P1
PubMed: Lucioli 2005
-
-
-
-
-
-
0
-
-
BTHLM1
-
1
1
Anne Lampe
00108762
P6
PubMed: Lucioli 2005
3 generation family
-
-
-
-
-
0
-
-
BTHLM1
-
1
1
Anne Lampe
00108763
P5
PubMed: Lucioli 2005
-
-
-
-
-
-
0
-
-
BTHLM1
prominent contractures
1
1
Anne Lampe
00108764
16278855-PatA
PubMed: Pepe 2005
-
F
no
France
-
-
0
-
-
UCMD
see paper; ..., mild
1
1
Anne Lampe
00108765
B
PubMed: Pepe 2005
-
-
-
-
-
-
0
-
-
BTHLM1
heterozygous, change in one individual
1
1
Anne Lampe
00108766
?
PubMed: Pan 2003
-
M
-
-
-
>12y
0
-
-
UCMD
-
1
1
Johan den Dunnen
00108767
P16
PubMed: Lucioli 2005
-
-
-
-
-
-
0
-
-
BTHLM1
-
1
1
Anne Lampe
00108768
Pat28, Pat29
PubMed: Lampe 2005
first degree relatives, no confirmatory data
-
-
-
-
-
0
-
-
BTHLM1
-
1
1
Johan den Dunnen
00108769
P12
PubMed: Lucioli 2005
-
-
-
-
-
-
0
-
-
BTHLM1
-
1
1
Anne Lampe
00108770
Pat45
PubMed: Lampe 2005
-
-
-
-
-
-
0
-
-
UCMD
mild
1
1
Johan den Dunnen
00108771
?
PubMed: Lampe 2005
-
-
-
-
-
-
0
-
-
UCMD
-
1
2
Johan den Dunnen
00108772
P4
PubMed: Giusti 2005
-
-
-
Italy
-
-
0
-
-
UCMD
mild
3
1
Anne Lampe
00108773
P1
PubMed: Giusti 2005
-
-
yes
Turkey
-
-
0
-
-
UCMD
-
3
1
Anne Lampe
00108774
Pat43
PubMed: Lampe 2005
-
-
-
-
-
-
0
-
-
BTHLM1
severe
1
1
Johan den Dunnen
00108775
P5
PubMed: Giusti 2005
-
-
-
Belgium
-
-
0
-
-
UCMD
mild
2
1
Anne Lampe
00108776
P14
PubMed: Lucioli 2005
-
-
-
-
-
-
0
-
-
BTHLM1
severe
1
1
Anne Lampe
00108777
?
PubMed: Jobsis 1996
3 generation family
-
-
-
-
-
0
-
-
BTHLM1
-
1
1
Johan den Dunnen
00108778
?
PubMed: LamandÈ 1998
large family, 9 affecteds
-
-
-
-
-
0
-
-
BTHLM1
-
1
9
Johan den Dunnen
00108779
?
PubMed: Baker 2005
-
-
-
-
-
-
0
-
-
UCMD
-
1
1
Johan den Dunnen
00108785
?
PubMed: Lampe 2005
-
-
-
-
-
-
0
-
-
BTHLM1
severe
1
1
Johan den Dunnen
00108795
Pat47
PubMed: Lampe 2005
-
-
-
-
-
-
0
-
-
UCMD
mild
1
1
Johan den Dunnen
00108806
?
PubMed: Lampe 2005
-
-
-
-
-
-
0
-
-
UCMD
mild
1
1
Johan den Dunnen
00108823
?
PubMed: Baker 2007
-
M
-
Australia
-
-
0
-
-
BTHLM1
-
2
1
Johan den Dunnen
00108824
?
PubMed: Baker 2007
-
M
-
United States
-
-
0
-
-
BTHLM1
CPK normal
3
1
Johan den Dunnen
00108825
?
PubMed: Baker 2007
-
M
-
United States
-
-
0
-
-
BTHLM1
CPK increased
1
1
Johan den Dunnen
00108826
?
PubMed: Baker 2007
-
F
-
Australia
-
-
0
-
-
BTHLM1
CPK increased
5
1
Johan den Dunnen
00108827
?
PubMed: Baker 2007
-
M
-
New Zealand
-
-
0
-
-
BTHLM1
CPK normal
1
1
Johan den Dunnen
00108828
?
PubMed: Baker 2007
-
M
-
Australia
-
-
0
-
-
BTHLM1
-
6
1
Johan den Dunnen
00108829
?
PubMed: Baker 2007
-
M
-
United Kingdom (Great Britain)
-
-
0
-
-
BTHLM1
CPK normal
2
1
Johan den Dunnen
00108830
?
PubMed: Baker 2007
-
M
-
Australia
-
-
0
-
-
BTHLM1
-
3
1
Johan den Dunnen
00108831
?
PubMed: Kawahara
-
-
-
-
-
-
0
-
-
UCMD
-
1
1
Johan den Dunnen
00108832
?
PubMed: Baker 2007
-
M
-
Belgium
-
-
0
-
-
BTHLM1
CPK normal
1
1
Johan den Dunnen
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