All individuals with variants in gene ANO5

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.

594 entries on 6 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6		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
00065234	-	Fichna ESHG2016 P10.20	3-generation family, 2 affecteds (2M)	M	no	Poland	-	-	-	-	-	LGMD	-	2	2	Johan den Dunnen
00073766	27068316-FamPatII2	PubMed: Duong 2016, Journal: Duong 2016	3-generation family, 8 affetecds (4F, 4M), case 1 (PatII2)	M	-	Germany;Italy	-	>41y	-	-	-	GDD	mandibular osteomyelitis (HP:0007626), increased susceptibility to fractures (HP:0002659), ...	1	8	Pieter Klap
00074345	-	Fichna ESHG2016 P10.20	-	-	no	Poland	-	-	-	-	-	GDD	-	2	1	Johan den Dunnen
00074346	-	Fichna ESHG2016 P10.20	-	-	no	Poland	-	-	-	-	-	GDD	-	1	1	Johan den Dunnen
00074347	-	Fichna ESHG2016 P10.20	-	-	no	Poland	-	-	-	-	-	GDD	-	1	1	Johan den Dunnen
00074348	-	Fichna ESHG2016 P10.20	-	-	no	Poland	-	-	-	-	-	GDD	-	1	1	Johan den Dunnen
00074349	-	Fichna ESHG2016 P10.20	-	-	no	Poland	-	-	-	-	-	GDD	-	1	1	Johan den Dunnen
00074350	-	Fichna ESHG2016 P10.20	-	-	no	Poland	-	-	-	-	-	GDD	-	1	1	Johan den Dunnen
00078730	-	PubMed: Akasaka 1969	4-generation family 17 affecteds	-	-	Japan	-	-	-	-	-	GDD	frequent bone fractures, propensity jaw infection, often suffer from purulent osteomyelitis-like symptoms (swelling of/pus discharge from gums, mobility teeth, insufficient healing after tooth extraction, exposure lesions into oral cavity), extragnathic skeletal changes (generalized coarse bony trabeculae, gross thickening diaphyseal cortices long bones)	1	17	Johan den Dunnen
00078731	-	PubMed: Tsutsumi 2004	father of 15124103_AAs	M	-	United States	African American	-	-	-	-	GDD	-	1	1	Johan den Dunnen
00078732	-	PubMed: Tsutsumi 2004	son of 15124103_AAf	M	-	United States	African American	-	-	-	-	GDD	-	1	1	Johan den Dunnen
00078733	-	PubMed: Jarry 2007	family 5 affected siblings, parents first-degree cousins	F	yes	Canada	French Canadian	>68y	-	-	-	LGMDR12;LGMD2L	iliopsoas MRC 4, quadriceps atrophy, quadriceps MRC 5, calf muscles no weakness, no distal weakness ; raised CPK (HP:0003236) 1649; >68y walking (-HP:0006957)	2	1	Johan den Dunnen
00078734	-	PubMed: Jarry 2007	family 5 affected siblings, parents first-degree cousins	M	yes	Canada	French Canadian	>67y	-	-	-	LGMDR12;LGMD2L	iliopsoas MRC 4, quadriceps atrophy, quadriceps MRC 4.5, calf muscles mild atrophy, no distal weakness ; raised CPK (HP:0003236) 1032; >67y walking (-HP:0006957)	2	1	Johan den Dunnen
00078735	-	PubMed: Jarry 2007	family 5 affected siblings, parents first-degree cousins	M	yes	Canada	French Canadian	>65y	-	-	-	LGMDR12;LGMD2L	iliopsoas MRC 4, quadriceps atrophy, quadriceps MRC 4, calf muscles mild atrophy, no distal weakness ; raised CPK (HP:0003236) 1156; >65y walking (-HP:0006957)	2	1	Johan den Dunnen
00078736	-	PubMed: Jarry 2007	family 5 affected siblings, parents first-degree cousins	M	yes	Canada	French Canadian	>47y	-	-	-	LGMDR12;LGMD2L	iliopsoas MRC 4, quadriceps atrophy, quadriceps MRC 5, calf muscles mild atrophy, no distal weakness ; raised CPK (HP:0003236) 6000; >47y walking (-HP:0006957)	2	1	Johan den Dunnen
00078737	-	PubMed: Jarry 2007	family 5 affected siblings, parents first-degree cousins	M	yes	Canada	French Canadian	-	-	-	-	LGMDR12;LGMD2L	deceased	2	1	Johan den Dunnen
00078738	-	PubMed: Bolduc 2010	family affected brother and sister	M	-	Canada	French Canadian	>43y	-	-	-	LGMDR12;LGMD2L	iliopsoas MRC 4, quadriceps atrophy, quadriceps MRC 5, calf muscles atrophy, distal weakness calf muscles 4/5; raised CPK (HP:0003236) 8081; >43y walking (-HP:0006957)	2	1	Johan den Dunnen
00078739	-	PubMed: Bolduc 2010	family affected brother and sister	F	-	Canada	French Canadian	>61y	-	-	-	LGMDR12;LGMD2L	iliopsoas MRC 4.5, no quadriceps atrophy, quadriceps MRC 5, calf muscles hypertrophy, no distal weakness ; raised CPK (HP:0003236) 4061; >61y walking (-HP:0006957)	2	1	Johan den Dunnen
00078740	-	PubMed: Bolduc 2010	-	F	-	Canada	French Canadian	>64y	-	-	-	LGMDR12;LGMD2L	iliopsoas MRC 3.5, quadriceps atrophy, quadriceps MRC 4.5, calf muscles hypertrophy, distal weakness tibialis ant. 4/5; raised CPK (HP:0003236) 1339; >64y walking (-HP:0006957)	2	1	Johan den Dunnen
00078741	-	PubMed: Jaiswal 2007, PubMed: Mahjneh 2010	family 2 affected brothers	M	-	Finland	-	>44y	-	-	-	MMD3	iliopsoas MRC Sin 4, quadriceps atrophy, quadriceps MRC 4 > 2, calf muscles hypertrophy, distal weakness calf muscles 2/5; raised CPK (HP:0003236) 15860; >44y walking (-HP:0006957)	2	1	Johan den Dunnen
00078742	-	PubMed: Jaiswal 2007, PubMed: Mahjneh 2010	family 2 affected brothers	M	-	Finland	-	>50y	-	-	-	MMD3	iliopsoas MRC 5, no quadriceps atrophy, quadriceps MRC 5, calf muscles hypertrophy, distal weakness calf muscles 4/5; raised CPK (HP:0003236) 12290; >50y walking (-HP:0006957)	2	1	Johan den Dunnen
00078743	-	PubMed: Linssen 1998	family 3 affected brothers	M	-	Netherlands	-	>72y	-	-	-	MMD3	iliopsoas MRC 4, no quadriceps atrophy, quadriceps MRC 4, calf muscles no weakness, distal weakness calf muscles 2/5; raised CPK (HP:0003236) 5400; >72y walking (-HP:0006957)	2	1	Johan den Dunnen
00078744	-	PubMed: Linssen 1998	family 3 affected brothers	M	-	Netherlands	-	>67y	-	-	-	MMD3	iliopsoas MRC 5, quadriceps atrophy, quadriceps MRC 5, calf muscles no weakness, distal weakness calf muscles 2/5; raised CPK (HP:0003236) 4500; >67y walking (-HP:0006957)	2	1	Johan den Dunnen
00078745	-	PubMed: Linssen 1998	family 3 affected brothers	M	-	Netherlands	-	>53y	-	-	-	MMD3	iliopsoas MRC 5, no quadriceps atrophy, quadriceps MRC 5, calf muscles no weakness, distal weakness calf muscles 2/5; raised CPK (HP:0003236) 4800; >53y walking (-HP:0006957)	2	1	Johan den Dunnen
00078746	-	PubMed: Bolduc 2010	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00078747	-	PubMed: Bolduc 2010	-	-	-	Netherlands	-	-	-	-	-	Healthy/Control	-	1	2	Johan den Dunnen
00078748	-	-	-	M	-	United States	-	-	-	-	-	MMD3	-	2	1	Tom Winder
00078749	-	Bolduc ASHG2011 A114	-	-	-	-	-	-	-	-	-	LGMD	IHC ANO5 striated signal preserved	1	1	Johan den Dunnen
00078750	-	PubMed: Sarkozy 2012	2-generation family, 2 affected brothers	M	-	United Kingdom (Great Britain)	-	>61y	-	-	-	LGMD	able walk on toes; difficulty walk on heels; muscle atrophy medial gastrocnemius; no scapular winging; contractures (wrist, TA), sleep apnoea, diabetes; raised CPK (HP:0003236) 3500; walking (-HP:0006957)	2	1	Johan den Dunnen
00078751	-	-	2-generation family, 2 affected brothers	M	-	United Kingdom (Great Britain)	-	68y	-	-	-	LGMD	no scapular winging; diabetes: deceased (cancer, bladder); raised CPK (HP:0003236) 4500; walking (-HP:0006957)	2	1	Johan den Dunnen
00078752	-	PubMed: Sarkozy 2012	-	M	-	United Kingdom (Great Britain)	-	>50y	-	-	-	LGMD	unable walk on toes; difficulty walk on heels; muscle atrophy quadriceps, hamstrings, gastrocnemius; no scapular winging; myoglobinuria; raised CPK (HP:0003236) 4000-8000; walking (-HP:0006957)	2	1	Johan den Dunnen
00078753	-	PubMed: Hicks 2011	-	M	-	United Kingdom (Great Britain)	-	>45y	-	-	-	LGMD	difficulty walk on toes; difficulty walk on heels; muscle atrophy biceps, brachioradialis, quadriceps, hamstrings; scapular winging; raised CPK (HP:0003236) 4000-8000; walking (-HP:0006957)	2	1	Johan den Dunnen
00078754	-	PubMed: Hicks 2011	-	M	-	United Kingdom (Great Britain)	-	>68y	-	-	-	LGMD	unable walk on toes; difficulty walk on heels; muscle atrophy Deltoids, biceps, triceps, quadriceps; no scapular winging; knee hyperextension, foot drop, IHD; raised CPK (HP:0003236) 3000; progressive inability to walk (HP:0002505) restricted	2	1	Johan den Dunnen
00078755	-	PubMed: Sarkozy 2012	2-generation family, 2 affected brothers	M	-	United Kingdom (Great Britain)	-	>37y	-	-	-	LGMD	able walk on toes; difficulty walk on heels; muscle atrophy medial gastrocnemius (assymetry); scapular winging; knee hyperextension, contractures (wrist, fingers); raised CPK (HP:0003236) 5000; progressive inability to walk (HP:0002505) restricted	2	1	Johan den Dunnen
00078756	-	PubMed: Sarkozy 2012	2-generation family, 2 affected brothers	M	-	United Kingdom (Great Britain)	-	>43y	-	-	-	LGMD	able walk on toes; unable walk on heels; muscle atrophy brachioradialis, hamstrings, medial gastrocnemius; no scapular winging; knee hyperextension; raised CPK (HP:0003236) 5300; walking (-HP:0006957)	2	1	Johan den Dunnen
00078757	-	PubMed: Hicks 2011	-	M	-	United Kingdom (Great Britain)	-	>61y	-	-	-	LGMD	able walk on toes; able walk on heels; muscle atrophy biceps, brachioradialis, pectoralis, quadriceps, hamstrings (assymetry); scapular winging (assymetry); knee hyperextension, calf hypertrophy, contractures (wrist, fingers); raised CPK (HP:0003236) 2400-3400; walking (-HP:0006957)	2	1	Johan den Dunnen
00078758	-	PubMed: Sarkozy 2012	2-generation family, 2 affected sisters	F	-	United Kingdom (Great Britain)	-	>54y	-	-	-	LGMD	unable walk on toes; unable walk on heels; muscle atrophy quadriceps, medial gastrocnemius; scapular winging; knee hyperextension; raised CPK (HP:0003236) 1800-10 000; walking (-HP:0006957)	2	1	Johan den Dunnen
00078759	-	PubMed: Hicks 2011	2-generation family, 2 affected sisters	F	-	United Kingdom (Great Britain)	-	>57y	-	-	-	LGMD	unable walk on toes; able walk on heels; muscle atrophy medial gastrocnemius; no scapular winging; contractures (Achilles tendons); raised CPK (HP:0003236) 3900; walking (-HP:0006957)	2	1	Johan den Dunnen
00078760	-	PubMed: Hicks 2011	-	M	-	United Kingdom (Great Britain)	-	>56y	-	-	-	LGMD	unable walk on toes; able walk on heels; muscle atrophy biceps focally, glutei, quadriceps, hamstrings, medial gastrocnemius (assymetry); no scapular winging; knee hyperextension; raised CPK (HP:0003236) 2500; walking (-HP:0006957)	2	1	Johan den Dunnen
00078761	-	PubMed: Sarkozy 2012	-	M	-	United Kingdom (Great Britain)	-	>47y	-	-	-	LGMD	unable walk on toes; difficulty walk on heels; muscle atrophy quadriceps, calves (assymetry); no scapular winging; raised CPK (HP:0003236) 4500; walking (-HP:0006957)	2	1	Johan den Dunnen
00078762	-	PubMed: Hicks 2011	-	M	-	United Kingdom (Great Britain)	-	>55y	-	-	-	LGMD	able walk on toes; difficulty walk on heels; muscle atrophy biceps focally, quadriceps, hamstrings, medial gastrocnemius (assymetry); scapular winging; knee hyperextension; raised CPK (HP:0003236) 4100; walking (-HP:0006957)	2	1	Johan den Dunnen
00078763	-	PubMed: Sarkozy 2012	-	M	-	United Kingdom (Great Britain)	-	>40y	-	-	-	LGMD	unable walk on toes; able walk on heels; muscle atrophy quadriceps and calves (assymetry); no scapular winging; raised CPK (HP:0003236) 3000-7000; walking (-HP:0006957)	2	1	Johan den Dunnen
00078764	-	PubMed: Hicks 2011	-	M	-	United Kingdom (Great Britain)	-	>58y	-	-	-	LGMD	unable walk on toes; unable walk on heels; muscle atrophy biceps focally, thighs; no scapular winging; raised CPK (HP:0003236) 4400; walking (-HP:0006957)	2	1	Johan den Dunnen
00078765	-	PubMed: Hicks 2011	2-generation family, 2 affected brothers	M	-	Germany	-	>49y	-	-	-	LGMD	unable walk on toes; unable walk on heels; muscle atrophy severe wasting LL muscles; scapular winging (assymetry); raised CPK (HP:0003236) 2900-3500; progressive inability to walk (HP:0002505) severely restricted	2	1	Johan den Dunnen
00078766	-	PubMed: Hicks 2011	2-generation family, 2 affected brothers	M	-	Germany	-	>48y	-	-	-	LGMD	able walk on toes; difficulty walk on heels; muscle atrophy quadriceps; no scapular winging; calf hypertrophy, myoglobinuria; raised CPK (HP:0003236) 800-4700; walking (-HP:0006957)	2	1	Johan den Dunnen
00078767	-	PubMed: Hicks 2011	-	M	-	Germany	-	>35y	-	-	-	LGMD	difficulty walk on toes; difficulty walk on heels; muscle atrophy quadriceps, calves; no scapular winging; onset late teens; raised CPK (HP:0003236) 5000; walking (-HP:0006957)	2	1	Johan den Dunnen
00078768	-	PubMed: Hicks 2011	2-generation family, 2 affected brothers	M	-	Germany	-	>58y	-	-	-	LGMD	able walk on toes; difficulty walk on heels; muscle atrophy medial gastrocnemius (assymetry); no scapular winging; raised CPK (HP:0003236) 300-2000; walking (-HP:0006957)	2	1	Johan den Dunnen
00078769	-	PubMed: Hicks 2011	2-generation family, 2 affected brothers	M	-	Germany	-	>56y	-	-	-	LGMD	unable walk on toes; unable walk on heels; muscle atrophy quadriceps, calves; scapular winging (assymetry); myoglobinuria; raised CPK (HP:0003236) 1700-3000; progressive inability to walk (HP:0002505) restricted	2	1	Johan den Dunnen
00078770	-	Penttila WMS2010 P1.26, PubMed: Penttila 2012	-	-	-	Finland	-	-	-	-	-	MPD	myopathy, distal, calf; weakness proximal upper/lower limbs	2	1	Johan den Dunnen
00078771	-	Penttila WMS2010 P1.26, PubMed: Penttila 2012	-	F	-	Finland	-	-	-	-	-	?	myositis; highCK, occasional lymphocytic infiltrations; raised CPK (HP:0003236) high	2	1	Johan den Dunnen
00078772	-	Penttila WMS2010 P1.26, PubMed: Penttila 2012	-	-	-	Finland	-	-	-	-	-	MPD	myopathy, distal, calf; weakness proximal upper/lower limbs	2	1	Johan den Dunnen
00078773	-	Penttila WMS2010 P1.26, PubMed: Penttila 2012	-	-	-	Finland	-	-	-	-	-	MPD	myopathy, distal, calf; weakness proximal lower limbs, EMG neurogenic	2	1	Johan den Dunnen
00078774	-	Penttila WMS2010 P1.26, PubMed: Penttila 2012	-	-	-	Finland	-	-	-	-	-	MPD	myopathy, distal, calf; weakness proximal lower limbs	2	1	Johan den Dunnen
00078775	-	Penttila WMS2010 P1.26, PubMed: Penttila 2012	family, 3 affecteds	M	-	United States	German	-	-	-	-	MPD	myopathy, distal, calf; distal lower limb calf weakness, atrophy	2	1	Johan den Dunnen
00078776	-	Penttila WMS2010 P1.26, PubMed: Penttila 2012	family, 3 affecteds	M	-	United States	German	-	-	-	-	MPD	myopathy, distal, calf; distal lower limb calf weakness, atrophy	2	1	Johan den Dunnen
00078777	-	Penttila WMS2010 P1.26, PubMed: Penttila 2012	family, 3 affecteds	M	-	United States	German	-	-	-	-	MPD	myopathy, distal, calf	2	1	Johan den Dunnen
00078778	-	Penttila WMS2010 P1.26, PubMed: Penttila 2012	-	-	-	Finland	-	-	-	-	-	MPD	myopathy, distal, calf; distal lower limb calf weakness, atrophy	2	1	Johan den Dunnen
00078779	-	-	-	-	-	United States	-	-	-	-	-	MPD	myopathy, Miyoshi, distal	2	1	Tom Winder
00078780	-	-	-	-	-	United States	-	-	-	-	-	LGMD	-	2	1	Tom Winder
00078781	-	-	-	M	-	United States	-	-	-	-	-	MPD	myopathy, Miyoshi	2	1	Tom Winder
00078782	-	PubMed: Milone 2011	-	F	-	Ireland;Poland	-	-	-	-	-	?	anoctaminopathy, exercize intolerance, late-onset proximal leg weaknes, recurrent rhabdomyolysis; muscle biopsy amyloid deposits blood vessel walls/around muscle fibers; childhood onset; raised CPK (HP:0003236) 444-22000; >53y walking (-HP:0006957)	2	1	Tom Winder
00078783	-	-	-	F	-	United States	white	-	-	-	-	MPD	myopathy, Miyoshi; normal dysferlin on biopsy staining	2	1	Tom Winder
00078784	-	-	-	-	-	United States	white	-	-	-	-	MPD	myopathy, distal, Miyoshi; distal leg weakness, atrophy; raised CPK (HP:0003236) 1000-1800; IHC normal, DYSF, DMD, SGCA	2	1	Tom Winder
00078785	-	-	-	M	-	United States	white	-	-	-	-	MPD	myopathy, Miyoshi, distal	2	1	Tom Winder
00078786	-	PubMed: Deschauer 2011	-	F	-	Germany	-	-	-	-	-	MD	raised CPK (HP:0003236) 30x; >70y walking (-HP:0006957)	2	1	Johan den Dunnen
00078787	-	PubMed: Sarkozy 2012	-	M	-	Germany	-	-	-	-	-	MD	raised CPK (HP:0003236) 241-2603; >52y walking (-HP:0006957)	2	1	Johan den Dunnen
00078788	-	PubMed: Sarkozy 2012	brother of 21739273-Pat3b	M	-	Germany	-	-	-	-	-	MD	raised CPK (HP:0003236) 1500-6100; >56y walking (-HP:0006957)	2	1	Johan den Dunnen
00078789	-	PubMed: Sarkozy 2012	sister of 21739273-Pat3a	F	-	Germany	-	-	-	-	-	MD	raised CPK (HP:0003236) 2280; >52y walking (-HP:0006957)	2	1	Johan den Dunnen
00078790	-	PubMed: Sarkozy 2012	-	M	-	Germany	-	-	-	-	-	MD	raised CPK (HP:0003236) 5000; >35y walking (-HP:0006957)	2	1	Johan den Dunnen
00078791	-	Bolduc ASHG2011 A114	-	-	-	-	-	-	-	-	-	LGMD	IHC ANO5 striated signal preserved	3	1	Johan den Dunnen
00078792	-	-	-	-	-	United States	-	-	-	-	-	LGMDR12;LGMD2L	-	2	1	Tom Winder
00078793	-	-	-	-	-	United States	white	-	-	-	-	LGMDR12;LGMD2L	dystrophic muscle biopsy	2	1	Tom Winder
00078794	-	-	-	-	-	Canada	French Canadian	-	-	-	-	LGMDR12;LGMD2L	-	2	1	Tom Winder
00078795	-	-	-	-	-	United States	-	-	-	-	-	LGMDR12;LGMD2L	-	2	1	Tom Winder
00078796	-	-	-	F	-	United States	European	-	-	-	-	MPD	progressive distal myopathy	2	1	Tom Winder
00078797	-	-	-	F	?	United States	-	-	-	-	-	LGMDR12;LGMD2L	-	2	1	Tom Winder
00078798	-	-	-	M	-	United States	Hispanic	-	-	-	-	LGMDR12;LGMD2L	-	2	1	Tom Winder
00078799	-	-	-	M	-	United States	-	-	-	-	-	LGMDR12;LGMD2L	-	2	1	Tom Winder
00078800	-	-	-	M	-	United States	white	-	-	-	-	LGMDR12;LGMD2L	-	2	1	Tom Winder
00078801	-	PubMed: Witting 2012	2-generation family, affected male	M	-	Denmark	-	-	-	-	-	hCK	left facial palsy caused by a schwannoma; no muscle wasting/weakness; 15y-myopathy, central nuclei, increased variability, regenerating fibers, no necrotic fibers fiber size; raised CPK (HP:0003236) 2700-25000; >17y walking (-HP:0006957)	2	1	Johan den Dunnen
00078802	-	PubMed: Witting 2012	2-generation family, affected sister	F	-	Denmark	-	-	-	-	-	hCK	no muscle/bone abnormalities; raised CPK (HP:0003236) 555-2990; >14y walking (-HP:0006957)	2	1	Johan den Dunnen
00078803	-	PubMed: Witting 2012	2-generation family, unaffected carrier parent and sister	?	-	Denmark	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00078804	-	PubMed: Witting 2012	2-generation family, unaffected carrier parent and brother	?	-	Denmark	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00078805	-	PubMed: Marconi 2012	6-generation family, 15 affecteds	F	-	Italy	-	>41y	-	-	-	GDD	cemento-osseous lesions jaw bones, inferior arch sclerosis, bilateral periodontopathy, bones thickening areas, jaw bones sclerosis, right jaw angle structural rearrangement, jaw odontoid cystis with included tooth purulent osteomyelitis; raised CPK (HP:0003236) 809 mU/ml	1	11	Johan den Dunnen
00078806	-	PubMed: Marconi 2012	6-generation family, 15 affecteds	M	-	Italy	-	>42y	-	-	-	GDD	spontaneous fractures vertebras, fibula, thighbones, radius/ulna, III right metatarsus, right iliac wing, hallux, healing problems after extraction wisdom teeth, cotton-wool-like pattern bony structure mandible, bone thickening jaws, areas cotton-wool-like pattern of alveolar region; raised CPK (HP:0003236) 112 mU/ml	1	1	Johan den Dunnen
00078807	-	PubMed: Marconi 2012	6-generation family, 15 affecteds	M	-	Italy	-	>76y	-	-	-	GDD	cemento-osseous lesions jaw bones, purulent osteomyelitis, bilateral osteolysis, jaw structural rearrangement, slow-healing fractured right knee/V left finger; raised CPK (HP:0003236) 89 mU/ml	1	1	Johan den Dunnen
00078808	-	PubMed: Marconi 2012	6-generation family, 15 affecteds	F	-	Italy	-	>70y	-	-	-	GDD	cemento-osseous lesions jaw bones, purulent osteomyelitis, no slow-healing fractured bones	1	1	Johan den Dunnen
00078809	-	PubMed: Marconi 2012	6-generation family, 15 affecteds	F	-	Italy	-	>75y	-	-	-	GDD	cemento-osseous lesions jaw bones, inferior arch sclerosis, bilateral periodontopathy, bones thickening areas, slow-healing fractured thighbones/humerus; raised CPK (HP:0003236) 132 mU/ml	1	1	Johan den Dunnen
00078810	-	PubMed: Sarkozy 2012	2-generation family, 2 affecteds (brothers), unaffected carrier parents	M	-	France	-	-	-	-	-	MPD	myopathy, distal, Myoshi-like; initial calf muscles involvement, asymmetric muscle atrophy preceding weakness; raised CPK (HP:0003236) 876-3138; >21y walking (-HP:0006957)	2	1	Johan den Dunnen
00078811	-	PubMed: Sarkozy 2012	2-generation family, 2 affecteds (brothers), unaffected carrier parents	M	-	France	-	-	-	-	-	MPD	myopathy, distal, Myoshi-like; initial calf muscles involvement, asymmetric muscle atrophy preceding weakness; raised CPK (HP:0003236) high; >21y walking (-HP:0006957)	2	1	Johan den Dunnen
00078812	-	PubMed: Wahbi 2012	-	M	-	France	-	-	-	-	-	LGMDR12;LGMD2L	heart failure father, ambulatory with support; raised CPK (HP:0003236) 784; >69y walking (-HP:0006957)	2	1	Johan den Dunnen
00078813	-	PubMed: Wahbi 2012	-	M	-	France	-	-	-	-	-	LGMDR12;LGMD2L	raised CPK (HP:0003236) 4387; >51y walking (-HP:0006957)	2	1	Johan den Dunnen
00078814	-	PubMed: Wahbi 2012	-	M	-	France	-	-	-	-	-	hCK	raised CPK (HP:0003236) 4000; >39y walking (-HP:0006957)	2	1	Johan den Dunnen
00078815	-	PubMed: Wahbi 2012	-	M	-	France	-	-	-	-	-	MPD	myopathy, pseudo-metabolic (PMM); ECG early repolarisation syndrome; raised CPK (HP:0003236) 5089; >30y walking (-HP:0006957)	2	1	Johan den Dunnen
00078816	-	PubMed: Wahbi 2012	-	M	-	France	-	-	-	-	-	LGMDR12;LGMD2L	dyslipidemia, CAD, ambulatory with support; raised CPK (HP:0003236) 1319; >64y walking (-HP:0006957)	2	1	Johan den Dunnen
00078817	-	PubMed: Wahbi 2012	-	M	-	France	-	-	-	-	-	MMD3	raised CPK (HP:0003236) 3000; >54y walking (-HP:0006957)	2	1	Johan den Dunnen
00078818	-	PubMed: Wahbi 2012	-	M	-	France	-	-	-	-	-	MPD	myopathy, proximo-distal; ambulatory with support; raised CPK (HP:0003236) 4662; >52y walking (-HP:0006957)	2	1	Johan den Dunnen
00078819	-	PubMed: Wahbi 2012	-	M	-	France	-	-	-	-	-	MMD3	ECG left ventricular hypertrophy; raised CPK (HP:0003236) 1433; >30y walking (-HP:0006957)	2	1	Johan den Dunnen
00078820	-	PubMed: Wahbi 2012	-	M	-	France	-	-	-	-	-	MMD3	raised CPK (HP:0003236) 2991; >33y walking (-HP:0006957)	2	1	Johan den Dunnen
00078821	-	PubMed: Wahbi 2012	-	M	-	France	-	-	-	-	-	hCK	raised CPK (HP:0003236) 3138; >21y walking (-HP:0006957)	2	1	Johan den Dunnen

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Global Variome shared LOVD

ANO5 (anoctamin 5)