All individuals with variants in gene GNE

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.

436 entries on 5 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5		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
00056065	-	-	-	F	-	Canada	-	-	-	-	-	MPD	myopathy, distal	2	1	Tom Winder
00056066	-	-	-	F	-	United States	-	-	-	-	-	IBM2	-	2	1	Tom Winder
00056067	-	PubMed: Wilcken 1987	-	F	-	Finland	-	-	-	-	-	sialuria	moderate developmental delay, hepatosplenomegaly, slightly coarse facial features, large tongue, macrocephaly, massive urinary excretion free sialic acid; 7y-mild intellectual impairment (attends regular school), fine-motor difficulty, growth 10th percentile, organomegaly persistent	1	1	Johan den Dunnen
00056068	-	PubMed: Krasnewich 1993	-	-	-	Finland	-	-	-	-	-	sialuria	hepatomegaly, dysmorphic facies, hirsutism, normal growth; 6y-IQ68;	1	1	Johan den Dunnen
00056069	-	PubMed: Weiss 1989	-	M	-	Finland	-	-	-	-	-	sialuria	hepatomegaly, coarse voice, facial features; 5y-growth/development normal;	1	1	Johan den Dunnen
00056070	-	-	-	F	-	Portugal	-	>7y6m	-	-	-	sialuria	sialuria	1	1	Johan den Dunnen
00056071	-	-	3-generation family, 6 affecteds (4F, 2M)	-	-	Iran	Jewish	-	-	-	-	IBM2	-	2	6	Johan den Dunnen
00056072	-	-	49 families, 118 affecteds	-	-	-	Middle East;Jewish	-	-	-	-	IBM2	-	2	118	Johan den Dunnen
00056073	-	-	-	-	-	Iran	Jewish	-	-	-	-	Healthy/Control	-	1	5	Johan den Dunnen
00056074	-	-	2-generation family, 4 affecteds (2F, 2M)	-	-	Bahamas	-	-	-	-	-	IBM2	-	2	5	Johan den Dunnen
00056075	-	-	2-generation family, 4 affecteds (3F, M)	-	-	United States	-	-	-	-	-	IBM2	-	2	5	Johan den Dunnen
00056076	-	-	2-generation family, 2 affecteds (F, M)	-	-	India	-	-	-	-	-	IBM2	rimmed vacuoles, inclusion bodies;	2	3	Johan den Dunnen
00056077	-	-	-	-	-	Iraq	Jewish	-	-	-	-	IBM2	-	2	1	Johan den Dunnen
00056078	-	-	-	-	-	Afghanistan	Jewish	-	-	-	-	IBM2	-	2	1	Johan den Dunnen
00056079	-	-	-	-	-	Uzbekistan	Jewish	-	-	-	-	IBM2	-	2	1	Johan den Dunnen
00056080	-	-	-	-	-	Egypt	Jewish	-	-	-	-	IBM2	-	2	1	Johan den Dunnen
00056081	-	-	-	-	-	-	Middle East, Kurdish	-	-	-	-	IBM2	-	2	1	Johan den Dunnen
00056082	-	-	family, 3 affecteds	-	-	-	Middle East, Bedouin	-	-	-	-	IBM2	-	2	3	Johan den Dunnen
00056083	-	-	family, 2 affecteds	-	-	Palestine	Middle East, Palestinian	-	-	-	-	IBM2	-	2	3	Johan den Dunnen
00056084	-	-	-	-	-	United States	-	-	-	-	-	IBM2	rimmed vacuoles, inclusion bodies;	2	2	Johan den Dunnen
00056085	-	-	-	-	-	United States	-	-	-	-	-	IBM2	rimmed vacuoles;	2	2	Johan den Dunnen
00056086	-	-	family, 2 affecteds	-	-	Germany	-	-	-	-	-	IBM2	rimmed vacuoles;	2	3	Johan den Dunnen
00056087	-	-	-	-	-	Italy	-	-	-	-	-	IBM2	rimmed vacuoles, lobulated fibers;	2	2	Johan den Dunnen
00056088	-	-	-	-	-	Italy	-	-	-	-	-	IBM2	rimmed vacuoles, inclusion bodies;	2	2	Johan den Dunnen
00056089	-	-	family, 2 affecteds	-	-	Ireland	-	-	-	-	-	IBM2	lobulated fibers (quadriceps only);	2	3	Johan den Dunnen
00056090	-	-	2-generation family, 2 affected males	M	-	Japan	-	>33y	-	-	-	NM;IBM2	myopathy, Nonaka;	2	2	Johan den Dunnen
00056091	-	-	-	M	-	Japan	-	-	-	-	-	NM;IBM2	myopathy, Nonaka; moderate proximal weakness L/E, quadriceps involvement, atrophy hand muscles;	2	2	Johan den Dunnen
00056092	-	-	-	F	-	Japan	-	-	-	-	-	NM;IBM2	myopathy, Nonaka, typical;	2	2	Johan den Dunnen
00056093	-	-	-	M	-	Japan	-	-	-	-	-	NM;IBM2	myopathy, Nonaka, typical;	2	2	Johan den Dunnen
00056094	-	-	-	F	-	Japan	-	-	-	-	-	NM;IBM2	myopathy, Nonaka, typical;	2	2	Johan den Dunnen
00056095	-	-	-	F	-	Japan	-	-	-	-	-	NM;IBM2	myopathy, Nonaka, typical;	2	2	Johan den Dunnen
00056096	-	-	-	F	-	Japan	-	-	-	-	-	NM;IBM2	myopathy, Nonaka, typical;	2	2	Johan den Dunnen
00056097	-	-	-	M	-	Japan	-	-	-	-	-	NM;IBM2	myopathy, Nonaka; late onset, slowly progressive;	2	2	Johan den Dunnen
00056098	-	-	-	M	-	Japan	-	-	-	-	-	NM;IBM2	myopathy, Nonaka, typical;	2	2	Johan den Dunnen
00056099	-	-	2-generation family, 2 affected males	M	-	Japan	-	>32y	-	-	-	NM;IBM2	myopathy, Nonaka;	2	2	Johan den Dunnen
00056100	-	-	patient and carrier mother (raised urine creatinine)	M	-	United States	-	-	-	-	-	sialuria	sialuria;	1	2	Johan den Dunnen
00056101	-	-	-	F	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles; mild proximal weakness L/E, no quadriceps involvement;	2	1	Johan den Dunnen
00056102	-	-	2-generation family, 2 affected females	F	-	United States	-	-	-	-	-	IBM2	-	2	2	Johan den Dunnen
00056103	-	PubMed: Gotlieb 2005	2-generation family, affected female, unaffected carrier parents; 16112887-Pat29	F	-	United States	-	-	-	-	-	IBM2	28y-walk crutches, lost ability walk >28y	2	2	Johan den Dunnen
00056104	-	-	2-generation family, 1 affected	?	-	(United States)	Iran	-	-	-	-	IBM2	-	2	2	Johan den Dunnen
00056105	-	-	2-generation family, 1 affected	?	-	(United States)	Iran	-	-	-	-	IBM2	-	2	2	Johan den Dunnen
00056106	-	PubMed: Gotlieb 2005	2-generation family, 2 affecteds (F, M)	?	-	United States	Jewish	>38y	-	-	-	IBM2	myopathy, inclusion body, type 1, quadriceps sparing; lost ability walk 35y	2	3	Johan den Dunnen
00056107	-	-	4-generation family, 2 affected females	F	-	Italy	-	-	-	-	-	IBM2	myopathy, inclusion body, type 1, quadriceps sparing;	2	2	Johan den Dunnen
00056108	-	-	5 clinically unaffected cases (5 families)	-	-	-	Middle East;Jewish	-	-	-	-	Healthy/Control	-	2	5	Johan den Dunnen
00056109	-	-	4-generation family, 2 affected females	F	-	Italy	-	-	-	-	-	IBM2	-	2	2	Johan den Dunnen
00056110	-	-	2-generation family, 2 affected females	F	-	Italy	-	>33y	-	-	-	IBM2	-	2	2	Johan den Dunnen
00056111	-	-	2-generation family, 2 affected females	F	-	Italy	-	>28y	-	-	-	IBM2	-	2	1	Johan den Dunnen
00056112	-	-	2-generation family, 2 affected males	M	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles;	2	2	Johan den Dunnen
00056113	-	-	2-generation family, 2 affected males	M	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles;	2	1	Johan den Dunnen
00056114	-	-	family, 2 siblings	?	-	Netherlands	-	-	-	-	-	IBM2	-	2	1	Johan den Dunnen
00056115	-	-	family, 2 siblings	?	-	Netherlands	-	-	-	-	-	IBM2	-	2	1	Johan den Dunnen
00056116	-	-	-	M	yes	Iran	-	>34y	-	-	-	IBM2	myopathy, inclusion body, type 1, quadriceps sparing;	2	1	Johan den Dunnen
00056117	-	-	-	M	-	Japan	-	>42y	-	-	-	MPD	myopathy, distal, rimmed vacuoles;	2	1	Johan den Dunnen
00056118	-	-	-	F	-	United States	-	-	-	-	-	IBM2	myopathy, inclusion body, type 1, quadriceps sparing;	2	1	Johan den Dunnen
00056119	-	-	-	F	-	India	Asian	-	-	-	-	IBM2	-	2	1	Johan den Dunnen
00056120	-	-	-	F	-	India	-	-	-	-	-	IBM2	-	2	1	Johan den Dunnen
00056121	-	-	-	F	-	Greece	-	-	-	-	-	IBM2	-	2	1	Johan den Dunnen
00056122	-	-	-	F	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles;	2	1	Johan den Dunnen
00056123	-	-	-	M	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles; CPK 581	2	1	Johan den Dunnen
00056124	-	-	-	F	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles; CPK 511	2	1	Johan den Dunnen
00056125	-	-	sib of 15136692-Pat05	F	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles; CPK 259	2	1	Johan den Dunnen
00056126	-	-	sib of 15136692-Pat04	F	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles; CPK 233	2	1	Johan den Dunnen
00056127	-	-	-	M	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles; CPK 214	2	1	Johan den Dunnen
00056128	-	-	-	M	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles; very rapid progression; CPK 647	2	1	Johan den Dunnen
00056129	-	-	-	M	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles; quadriceps weakness; CPK 533	2	1	Johan den Dunnen
00056130	-	-	-	M	-	Japan	-	-	-	-	-	NM;IBM2	myopathy, Nonaka; CPK 2281	2	1	Johan den Dunnen
00056131	-	-	-	M	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles; CPK 359	2	1	Johan den Dunnen
00056132	-	-	-	F	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles; CPK 480	2	1	Johan den Dunnen
00056133	-	-	-	M	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles; CPK 1100	2	1	Johan den Dunnen
00056134	-	-	-	F	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles; CPK 269	2	1	Johan den Dunnen
00056135	-	-	-	M	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles; very slow progression; CPK 367	2	1	Johan den Dunnen
00056136	-	-	-	M	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles; CPK 1121	2	1	Johan den Dunnen
00056137	-	-	-	F	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles; CPK 145	2	1	Johan den Dunnen
00056138	-	-	-	F	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles; CPK 248	2	1	Johan den Dunnen
00056139	-	-	-	M	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles; CPK 1310	2	1	Johan den Dunnen
00056140	-	-	-	M	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles; CPK 1620	2	1	Johan den Dunnen
00056141	-	-	-	F	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles; CPK 811	2	1	Johan den Dunnen
00056142	-	-	-	M	-	Japan	-	-	-	-	-	MYOP	myopathy, proximal dominant; CPK 811	2	1	Johan den Dunnen
00056143	-	-	-	M	-	Italy	-	>55y	-	-	-	IBM2	-	2	1	Johan den Dunnen
00056144	-	-	-	F	-	Italy	-	>48y	-	-	-	IBM2	-	2	1	Johan den Dunnen
00056145	-	-	-	F	-	Italy	-	>42y	-	-	-	IBM2	-	2	1	Johan den Dunnen
00056146	-	-	-	M	-	Italy	-	>18y	-	-	-	IBM2	-	2	1	Johan den Dunnen
00056147	-	-	-	F	-	Italy	-	>25y	-	-	-	IBM2	-	2	1	Johan den Dunnen
00056148	-	-	-	F	-	Italy	-	>49y	-	-	-	IBM2	-	2	1	Johan den Dunnen
00056149	-	-	-	F	-	Italy	-	>37y	-	-	-	IBM2	-	2	1	Johan den Dunnen
00056150	-	-	-	F	-	Italy	-	>34y	-	-	-	IBM2	-	2	1	Johan den Dunnen
00056151	-	-	4-generation family, 4 affecteds	M	-	Tunisia	-	-	-	-	-	IBM2	-	2	1	Johan den Dunnen
00056152	-	-	4-generation family, 4 affecteds	F	-	Tunisia	-	-	-	-	-	IBM2	-	2	1	Johan den Dunnen
00056153	-	-	4-generation family, 4 affecteds	M	-	Tunisia	-	-	-	-	-	IBM2	-	2	1	Johan den Dunnen
00056154	-	-	4-generation family, 4 affecteds	M	-	Tunisia	-	-	-	-	-	IBM2	-	2	1	Johan den Dunnen
00056155	-	-	4-generation family, 4 affecteds	F	-	Tunisia	Tunisian	-	-	-	-	IBM2	-	2	1	Johan den Dunnen
00056156	-	-	4-generation family, 4 affecteds	F	-	Tunisia	Tunisian	-	-	-	-	IBM2	-	2	1	Johan den Dunnen
00056157	-	-	4-generation family, 4 affecteds	F	-	Tunisia	Tunisian	-	-	-	-	IBM2	-	2	1	Johan den Dunnen
00056158	-	-	4-generation family, 4 affecteds	M	-	Tunisia	Tunisian	-	-	-	-	IBM2	-	2	1	Johan den Dunnen
00056159	-	-	3-generation family, 2 affecteds	M	-	China	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles;	2	2	Johan den Dunnen
00056160	-	-	3-generation family, 2 affecteds	F	-	China	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles;	2	1	Johan den Dunnen
00056161	-	-	-	F	-	Korea	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles; CPK 275	2	1	Johan den Dunnen
00056162	-	-	-	F	-	Korea	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles; CPK 413	2	1	Johan den Dunnen
00056163	-	-	-	F	-	Korea	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles; CPK 352	2	1	Johan den Dunnen
00056164	-	-	-	F	-	Korea	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles; CPK 222	2	1	Johan den Dunnen

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Global Variome shared LOVD

GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acety...)