All individuals with variants in gene FKTN

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.

235 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	Variants	Panel size	Owner
00000008	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00000031	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00000064	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00000068	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00000081	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00000085	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00000097	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00146856	20961758-Pat1	PubMed: Yis 2010	-	F	-	Greece;Croatia (Hrvatska)	-	-	-	-	-	WWS	CPK level 2236-6685	2	2	Johan den Dunnen
00151425	19342235.b	PubMed: Puckett 2009	older brother of 07-141; mother Japanese, father Caucasian	M	no	Japan;United States	Asia;white	-	-	-	-	CMD	4y-subtle abnormalities, incl. mild hypotonia, decreased muscle strength, calf hypertrophy, partial Gowers maneuver, decreased deep tendon reflexes, incipient lumbar lordosis, pectus excavatum; 5y- waddling gait; CPK level 4068-9955; roll over-6m, sit 8m, walk 12m	2	1	Tom Winder
00151426	?	PubMed: Zanoteli 2002	mother Japanese, father Japanese/Brazilian	M	-	Japan;Brazil	-	-	-	-	-	MDC	-	1	1	Johan den Dunnen
00151427	?	PubMed: Kobayashi 2001	3 affecteds	-	-	Japan	-	-	-	-	-	MDC	severe	2	3	Johan den Dunnen
00151428	?	PubMed: Kobayashi 2001	4 affecteds	-	-	Japan	-	-	-	-	-	MDC	-	1	4	Johan den Dunnen
00151429	?	PubMed: Matsumoto 2005	5 affecteds	-	-	Japan	-	-	-	-	-	MDC	-	1	5	Johan den Dunnen
00151430	?	PubMed: Akiyama 2006	-	M	-	Japan	-	>14y	-	-	-	MDC	mild	1	1	Johan den Dunnen
00151431	?	PubMed: Matsumoto 2005	3 affecteds	-	-	Japan	-	-	-	-	-	MDC	-	2	3	Johan den Dunnen
00151432	?	PubMed: Kobayashi 1998, PubMed: Kondo-Iida 1999	80 patients common ancestor, variant present in 125/144 87% FCMD alleles (D9S2105-D9S2170-D9S2171-D9S2107 as 138-192-147-183); RNA near undetectable	-	-	Japan	-	-	-	-	-	MDC	-	2	80	Johan den Dunnen
00151433	?	PubMed: Kobayashi 2001	19 affecteds	-	-	Japan	-	-	-	-	-	MDC	-	2	19	Johan den Dunnen
00151434	?	PubMed: Matsumoto 2005	42 homozygous patients	-	-	Japan	-	-	-	-	-	MDC	-	2	42	Johan den Dunnen
00151435	?	-	-	F	-	United States	-	-	-	-	-	WWS	-	2	1	Tom Winder
00151436	Pat2	PubMed: Beltran-Valero 2003	-	-	-	-	-	-	-	-	-	WWS	-	2	1	Johan den Dunnen
00151437	Pat1	PubMed: Beltran-Valero 2003	first cousin parents	M	-	Turkey	-	-	-	-	-	WWS	-	2	1	Johan den Dunnen
00151438	?	PubMed: Silan 2003	first-cousin parents (Oguz)	M	-	Turkey	-	10d	-	-	-	MDC	severe; CPK level 4214	2	1	Johan den Dunnen
00151439	?	PubMed: Kobayashi 1998, PubMed: Kondo-Iida 1999	-	F	-	Japan	-	-	-	-	-	MDC	severe	2	1	Johan den Dunnen
00151440	?	PubMed: Kobayashi 1998, PubMed: Kondo-Iida 1999	father US (UK/German ancestry)	F	-	Japan;United States	white; Asian	-	-	-	-	MDC	severe	2	1	Johan den Dunnen
00151441	?	PubMed: Kondo-Iida 1999	-	F	-	Japan	-	-	-	-	-	MDC	severe	2	1	Johan den Dunnen
00151442	?	PubMed: Kondo-Iida 1999	-	M	-	Japan	-	-	-	-	-	MDC	-	2	1	Johan den Dunnen
00151443	?	PubMed: Kondo-Iida 1999	-	F	-	Japan	-	-	-	-	-	MDC	severe, microphthalmia	2	1	Johan den Dunnen
00151444	?	PubMed: Kondo-Iida 1999	2 affecteds	-	-	Japan	-	-	-	-	-	MDC	severe	2	2	Johan den Dunnen
00151445	?	PubMed: Kobayashi 2001	-	F	-	Japan	-	-	-	-	-	MDC	severe	2	1	Johan den Dunnen
00151446	?	PubMed: Kobayashi 2001	-	M	-	Japan	-	-	-	-	-	MDC	severe	2	1	Johan den Dunnen
00151447	?	PubMed: Kobayashi 2001	-	M	-	Japan	-	-	-	-	-	MDC	severe	2	1	Johan den Dunnen
00151448	?	PubMed: Matsumoto 2005	-	-	-	Japan	-	-	-	-	-	MDC	-	2	1	Johan den Dunnen
00151449	?	PubMed: Matsumoto 2005	-	-	-	Japan	-	-	-	-	-	MDC	-	2	1	Johan den Dunnen
00151450	?	PubMed: Matsumoto 2005	-	-	-	Japan	-	-	-	-	-	MDC	-	2	1	Johan den Dunnen
00151451	?	PubMed: Matsumoto 2005	-	-	-	Japan	-	-	-	-	-	MDC	-	2	1	Johan den Dunnen
00151452	?	PubMed: Puckett 2009	younger brother of 19342235.b; mother Japanese, father Caucasian	M	no	Japan;United States	Asia;white	-	-	-	-	LGMD	13m-failure to thrive, elevated transaminases, elevated CK; 21m-muscle weakness incipient pectus excavatum, modified Gowers maneuver, decreased deep tendon reflexes, cognitive/motor development normal, cardiac/ophthalmology evaluations normal; 2y-calf hypertrophy; CPK level 1865-12131	2	1	Tom Winder
00151453	?	PubMed: Cao 2001	-	-	-	United States	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00151454	?	PubMed: Kobayashi 1998, PubMed: Watanabe 2005	-	-	-	Japan	-	-	-	-	-	Healthy/Control	-	1	15	Johan den Dunnen
00151455	?	PubMed: Kobayashi 1998, PubMed: Watanabe 2005	-	-	-	Korea, South (Republic)	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00151456	?	PubMed: Kobayashi 1998, PubMed: Watanabe 2005	-	-	-	Mongolia	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00151457	?	PubMed: Kobayashi 1998, PubMed: Watanabe 2005	-	-	-	China	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00151458	?	-	-	-	-	Japan	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00151459	?	PubMed: Kobayashi 2001	-	-	-	Japan	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00151460	?	-	-	-	-	Japan	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00151461	?	-	-	-	-	Japan	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00151462	?	-	-	-	-	Japan	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00151463	?	PubMed: Kobayashi 1998, PubMed: Watanabe 2005	-	-	-	Japan	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00151464	?	-	-	-	-	Japan	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00151465	?	PubMed: Cao 2001	-	-	-	United States	-	-	-	-	-	Healthy/Control	-	1	50	Johan den Dunnen
00151466	?	PubMed: Cao 2001	-	-	-	United States	Japan	-	-	-	-	Healthy/Control	-	1	9	Johan den Dunnen
00151467	?	-	-	F	-	United States	-	-	-	-	-	WWS	-	1	1	Tom Winder
00151468	?	PubMed: Oliveira 2008	-	F	-	Portugal	-	-	-	-	-	MDC	brain changes; intellectual disability (HP:0001249)	2	1	Rosário dos Santos
00151469	17878207.?	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00151470	17878207.?	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00151471	17878207.?	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00151472	17878207.?	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00151473	17878207.?	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00151474	17878207.?	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00151475	17878207.?	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00151476	17878207.?	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00151477	-	PubMed: Clement-Pat4, PubMed: Godfrey 2007	-	F	no	Israel	-	>11y	-	-	-	LGMD	hypotonia, febrile illness (skin vesicles), no contractures, hypertrophy, spine unaffected, weakness lower limbs > upper limbs, flexors stronger than extensors, eyes unaffected, no microcepahly, MRI brain normal; prednisolone treatment positive; no microcephaly, no eye involvement; CPK level 60000; no intellectual disability (-HP:0001249); able to walk	2	1	Johan den Dunnen
00151478	?	PubMed: Godfrey 2006, PubMed: Godfrey 2007	brother of 17878207.29b	M	no	India	Jewish	>10y	-	-	-	LGMD	hypotonia, gross motor developmental delay, no contractures, hypertrophy, weakness upper limbs > lower limbs, no microcepahly, periscapular atrophy, MRI brain normal; prednisone treatment positive; CPK level 9951; no intellectual disability (-HP:0001249); able to walk	2	1	Johan den Dunnen
00151479	-	PubMed: Clement-Pat3, PubMed: Godfrey 2007	sister of 17878207.29a	?	no	India	Jewish	>10y	-	-	-	LGMD	hypotonia, no contractures, hypertrophy, spine unaffected, weakness lower limbs > upper limbs, eyes unaffected, no microcepahly, MRI brain normal (frontal small subarachnoid cyst); prednisone treatment positive; no microcephaly, no eye involvement; CPK level 13000; no intellectual disability (-HP:0001249); able to walk	2	1	Johan den Dunnen
00151480	-	PubMed: Clement-Pat1, PubMed: Godfrey 2007	-	?	-	-	-	-	-	-	-	MDC	no contractures, no hypertrophy, spine unaffected, generelaised limb weakness, eyes unaffected, white matter mild abnormality, hypothyroid; no microcephaly, no eye involvement; CPK level 3200; no intellectual disability (-HP:0001249); able to sit	1	1	Johan den Dunnen
00151481	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	WWS	contractures, hypertrophy, spine unaffected, retinal detachment, micropthalmia, MRI hydrocephaly, cerebellar hypoplasia, white matter abnormality, brainstem involvement, dysmorphic; CPK level 7000	2	1	Johan den Dunnen
00151482	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MDC	no contractures, hypertrophy, spine unaffected, eyes unaffected, MRI hydrocephalus, white matter abnormality, cerebellar cysts,; CPK level 4000; intellectual disability (HP:0001249); able to sit	2	1	Johan den Dunnen
00151483	FamPat31a/Pat45	PubMed: Godfrey 2007, PubMed: O'Grady 2016	2-generation family, 2 affected, unaffected heterozygous carrier parents	F	-	-	-	-	-	-	-	LGMD	contractures, spine unaffected,; CPK level 9000; no intellectual disability (-HP:0001249); able to run	2	2	Johan den Dunnen
00151484	FamPat31b	PubMed: Clement-Pat2, PubMed: Godfrey 2007	relative of FamPat31a	?	-	-	-	-	-	-	-	LGMD	contractures, hypertrophy, spine unaffected, weakness lower limbs > upper limbs, MRI normal, congenital hip dislocation, increased weakness with fever; no microcephaly, no eye involvement; CPK level 5700; no intellectual disability (-HP:0001249); able to run	2	1	Johan den Dunnen
00151485	?	PubMed: Beltran-Valero 2003	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00151486	?	PubMed: Bouchet 2007	aborted fetus	-	-	(France)	-	<0y	-	-	-	LIS	-	1	1	Johan den Dunnen
00151487	?	PubMed: Bouchet 2007	-	-	-	France	-	-	-	-	-	Healthy/Control	-	1	7	Johan den Dunnen
00151488	patient1	{PMID18177472 :Cotarelo 2008}	-	F	no	Spain	-	5d	-	-	-	WWS	Dysmorphic facial features, brain and ocular changes; CPK level elevated	2	1	Rosário dos Santos
00151489	patient2	{PMID18177472 :Cotarelo 2008}	-	M	no	-	Jewish-Ashkenazi	-	-	-	-	WWS	Hydrocephaly; brain and ocular changes	2	1	Rosário dos Santos
00151490	?	PubMed: Arimura 2008	-	F	-	Japan	-	>19y	-	-	-	CMD	CPK level 6570; FVC 38%; 41%; able to run (normal milestones)	2	1	Rosário dos Santos
00151491	?	PubMed: Manzini 2008, PubMed: Willer 2012	GM16192 Coriell Cell Repository	-	no	United States	white	-	-	-	-	WWS	brain and eye involvement, seizures; CPK level 2255	2	1	Rosário dos Santos
00151492	?	PubMed: Manzini 2008	-	-	-	United States	Hispanic	-	-	-	-	WWS	-	2	1	Rosário dos Santos
00151493	?	PubMed: Manzini 2008	-	-	no	-	Jewish-Ashkenazi	-	-	-	-	WWS	CPK level elevated	2	1	Rosário dos Santos
00151494	?	PubMed: Manzini 2008	-	-	no	-	Jewish-Ashkenazi	-	-	-	-	WWS	CPK level 39146	2	1	Rosário dos Santos
00151495	?	PubMed: Manzini 2008	-	-	no	-	Jewish-Ashkenazi	-	-	-	-	WWS	CPK level 9900	2	1	Rosário dos Santos
00151496	19179078.1	PubMed: Vuillaumier-Barrot 2009	sister of 19179078.2	F	no	Portugal	white	35y	-	-	-	MDC	progressive muscle weakness, posterior fossa malformation with cysts, MRI brain atrophy, multiple contractures, severe respiratory insufficiency, death septic shock; CPK level 2800-4900; intellectual disability (HP:0001249) IQv <50; 10y-lost ambulation	2	1	Rosário dos Santos
00151497	19179078.2	PubMed: Vuillaumier-Barrot 2009	sister of 19179078.1	F	no	Portugal	white	>19y	-	-	-	MDC	posterior fossa malformation with cysts, MRI brain atrophy, low birth weight; CPK level raised; intellectual disability (HP:0001249) IQv 61; was able to sit	2	1	Rosário dos Santos
00151498	19179078.3	PubMed: Vuillaumier-Barrot 2009	-	F	-	Turkey	white	>19y	-	-	-	LGMD	delayed otor development, surgery for bilateral pes equinovarus (3y/7y); CPK level 4940; no intellectual disability (-HP:0001249); 11y-lost ambulation	2	1	Rosário dos Santos
00151499	19179078.4	PubMed: Vuillaumier-Barrot 2009	-	M	-	France	white	>7y	-	-	-	LGMD	post-exercise myalgia; CPK level 1500; no intellectual disability (-HP:0001249) IQ 104; able to walk	2	1	Rosário dos Santos
00151500	17036286.1	PubMed: Murakami 2006	brother of 17036286.2	M	no	Japan	-	>30y	-	-	-	CMD	LVEF 14%, LVDd 69, LVDs 59; calf hypertrophy, 24y-Gowers sign, 18y-heart transplant; CPK level 400-3000; no intellectual disability (-HP:0001249)	2	1	Johan den Dunnen
00151501	17036286.2	PubMed: Murakami 2006	sister of 17036286.1	F	no	Japan	-	>33y	-	-	-	CMD	LVEF 40%, LVDd 59, LVDs 46; CPK level 1500-1800; no intellectual disability (-HP:0001249)	2	1	Johan den Dunnen
00151502	17036286.3	PubMed: Murakami 2006	sister of 17036286.4	F	no	Japan	-	>22y	-	-	-	CMD	LVEF 25%, LVDd 64, LVDs 57; calf hypertrophy; CPK level 2000-4000; no intellectual disability (-HP:0001249)	2	1	Johan den Dunnen
00151503	17036286.4	PubMed: Murakami 2006	brother of 17036286.3	M	no	Japan	-	12y	-	-	-	CMD	LVEF 14%, LVDd 75, LVDs 72; death cardiac failure; CPK level high; no intellectual disability (-HP:0001249)	2	1	Johan den Dunnen
00151504	17036286.5	PubMed: Murakami 2006	-	F	no	Japan	-	>54y	-	-	-	CMD	LVEF 31%, LVDd 78, LVDs 64; calf hypertrophy, 41y Gowers sign; CPK level 1200-2000; no intellectual disability (-HP:0001249)	2	1	Johan den Dunnen
00151505	17036286.6	PubMed: Murakami 2006	-	F	no	Japan	-	>30y	-	-	-	CMD	LVEF 32%, LVDd 63, LVDs 52; calf hypertrophy, 26y Gowers sign; CPK level 1139; no intellectual disability (-HP:0001249)	2	1	Johan den Dunnen
00151506	?	-	-	M	-	(United States)	African American	-	-	-	-	CMD	S/P heart transplant	3	1	Tom Winder
00151507	?	-	-	-	-	(United States)	-	-	-	-	-	MDC	-	1	1	Tom Winder
00151508	?	-	no variants in POMT1, POMT2, POMGnT1, FKRP, LARGE	-	-	(United States)	-	-	-	-	-	WWS	-	1	1	Tom Winder
00151509	?	-	-	-	-	Mexico	Hispanic	-	-	-	-	WWS	-	1	1	Tom Winder
00151510	?	-	-	-	-	United States	-	-	-	-	-	WWS	-	2	1	Tom Winder
00151511	20620061-P1	PubMed: Lim 2010	-	F	-	Korea	-	>2y	-	-	-	MDC	speech: few words, patchy white matter changes; CPK level 5002; able to roll over	2	1	Johan den Dunnen
00151512	20620061-P2	PubMed: Lim 2010	-	F	-	Korea	-	>8y	-	-	-	MDC	mild, speech: sentences, patchy white matter changes; CPK level 4712; able to stand (assisted)	2	1	Johan den Dunnen
00151513	20620061-P3	PubMed: Lim 2010	-	M	-	Korea	-	>2y	-	-	-	MDC	severe, speech: no meaningful sounds, myopia, esotropia, patchy white matter changes; CPK level 4900; no head control	2	1	Johan den Dunnen
00151514	20620061-P4	PubMed: Lim 2010	-	F	-	Korea	-	>2y	-	-	-	MDC	severe, speech: babble, diffuse white matter changes; CPK level 7840; no head control	2	1	Johan den Dunnen
00151515	20620061-P5	PubMed: Lim 2010	-	F	-	Korea	-	>7y	-	-	-	MDC	severe, speech: babble, tracheostomy, diffuse white matter changes; CPK level 8566; no head control	2	1	Johan den Dunnen
00151516	20620061-P6	PubMed: Lim 2010	-	M	-	Korea	-	>3y	-	-	-	MDC	severe, speech: no meaningful sounds, cataract, diffuse white matter changes; CPK level 3798; no head control	2	1	Johan den Dunnen

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Global Variome shared LOVD

FKTN (fukutin)