Disease #05106 (MPD (myopathy, distal (MPD)))

Official abbreviation	MPD
Name	myopathy, distal (MPD)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	168
Phenotype entries for this disease	154
Associated with 2 genes	DNAJB4, PTPN11
Associated tissues	-
Disease features	-
Remarks	-
Date created	2015-12-08 01:43:19 +01:00 (CET)
Date last edited	N/A

Individuals

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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.

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\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
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<=	Date	<=2020-06	all entries in or before June, 2020
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Example	Matches
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168 entries on 2 pages. Showing entries 1 - 100.

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Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00056065	-	-	-	F	-	Canada	-	-	-	-	-	MPD	myopathy, distal	GNE	GNE	2	1	Tom Winder
00056101	-	-	-	F	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles; mild proximal weakness L/E, no quadriceps involvement;	GNE	GNE	2	1	Johan den Dunnen
00056112	-	-	2-generation family, 2 affected males	M	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles;	GNE	GNE	2	2	Johan den Dunnen
00056113	-	-	2-generation family, 2 affected males	M	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles;	GNE	GNE	2	1	Johan den Dunnen
00056117	-	-	-	M	-	Japan	-	>42y	-	-	-	MPD	myopathy, distal, rimmed vacuoles;	GNE	GNE	2	1	Johan den Dunnen
00056122	-	-	-	F	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles;	GNE	GNE	2	1	Johan den Dunnen
00056123	-	-	-	M	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles; CPK 581	GNE	GNE	2	1	Johan den Dunnen
00056124	-	-	-	F	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles; CPK 511	GNE	GNE	2	1	Johan den Dunnen
00056125	-	-	sib of 15136692-Pat05	F	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles; CPK 259	GNE	GNE	2	1	Johan den Dunnen
00056126	-	-	sib of 15136692-Pat04	F	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles; CPK 233	GNE	GNE	2	1	Johan den Dunnen
00056127	-	-	-	M	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles; CPK 214	GNE	GNE	2	1	Johan den Dunnen
00056128	-	-	-	M	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles; very rapid progression; CPK 647	GNE	GNE	2	1	Johan den Dunnen
00056129	-	-	-	M	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles; quadriceps weakness; CPK 533	GNE	GNE	2	1	Johan den Dunnen
00056131	-	-	-	M	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles; CPK 359	GNE	GNE	2	1	Johan den Dunnen
00056132	-	-	-	F	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles; CPK 480	GNE	GNE	2	1	Johan den Dunnen
00056133	-	-	-	M	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles; CPK 1100	GNE	GNE	2	1	Johan den Dunnen
00056134	-	-	-	F	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles; CPK 269	GNE	GNE	2	1	Johan den Dunnen
00056135	-	-	-	M	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles; very slow progression; CPK 367	GNE	GNE	2	1	Johan den Dunnen
00056136	-	-	-	M	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles; CPK 1121	GNE	GNE	2	1	Johan den Dunnen
00056137	-	-	-	F	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles; CPK 145	GNE	GNE	2	1	Johan den Dunnen
00056138	-	-	-	F	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles; CPK 248	GNE	GNE	2	1	Johan den Dunnen
00056139	-	-	-	M	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles; CPK 1310	GNE	GNE	2	1	Johan den Dunnen
00056140	-	-	-	M	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles; CPK 1620	GNE	GNE	2	1	Johan den Dunnen
00056141	-	-	-	F	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles; CPK 811	GNE	GNE	2	1	Johan den Dunnen
00056159	-	-	3-generation family, 2 affecteds	M	-	China	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles;	GNE	GNE	2	2	Johan den Dunnen
00056160	-	-	3-generation family, 2 affecteds	F	-	China	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles;	GNE	GNE	2	1	Johan den Dunnen
00056161	-	-	-	F	-	Korea	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles; CPK 275	GNE	GNE	2	1	Johan den Dunnen
00056162	-	-	-	F	-	Korea	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles; CPK 413	GNE	GNE	2	1	Johan den Dunnen
00056163	-	-	-	F	-	Korea	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles; CPK 352	GNE	GNE	2	1	Johan den Dunnen
00056164	-	-	-	F	-	Korea	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles; CPK 222	GNE	GNE	2	1	Johan den Dunnen
00056165	-	-	-	F	-	Korea	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles; CPK 231	GNE	GNE	2	1	Johan den Dunnen
00056166	-	-	-	M	-	Korea	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles; CPK 271	GNE	GNE	2	1	Johan den Dunnen
00056167	-	-	-	M	-	Korea	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles; CPK 1422	GNE	GNE	2	1	Johan den Dunnen
00056168	-	-	-	F	-	Korea	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles; CPK 211	GNE	GNE	2	1	Johan den Dunnen
00056169	-	-	affected brother	F	-	Thailand	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles; possible rigid spine during pregnancy, unable to walk independently for 2y;	GNE	GNE	2	1	Johan den Dunnen
00056170	-	-	-	F	-	Thailand	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles; foot drop (worsened in pregnancy), unable to walk independently for 2y;	GNE	GNE	2	1	Johan den Dunnen
00056171	-	-	affected sister	M	-	Thailand	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles; foot drop, bilateral leg atrophy;	GNE	GNE	2	1	Johan den Dunnen
00056172	-	-	affected brother	F	-	Thailand	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles; waddling gait (worsened in pregnancy), unable to walk independently for several months;	GNE	GNE	2	1	Johan den Dunnen
00056178	-	-	family, 2 affecteds, consanguineous parent	-	yes	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles;	GNE	GNE	2	2	Johan den Dunnen
00056179	-	-	consanguineous parents	-	yes	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles;	GNE	GNE	2	1	Johan den Dunnen
00056180	-	-	consanguineous parents	-	yes	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles;	GNE	GNE	2	1	Johan den Dunnen
00056181	-	-	consanguineous parents	-	yes	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles;	GNE	GNE	2	1	Johan den Dunnen
00056182	-	-	consanguineous parents	-	yes	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles;	GNE	GNE	2	1	Johan den Dunnen
00056183	-	-	family, 2 affecteds, consanguineous parent	-	yes	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles;	GNE	GNE	2	2	Johan den Dunnen
00056195	-	-	-	-	-	France	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles;	GNE	GNE	1	1	Johan den Dunnen
00056196	-	-	-	-	-	France	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles;	GNE	GNE	1	1	Johan den Dunnen
00056197	-	-	-	-	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles;	GNE	GNE	2	1	Johan den Dunnen
00056198	-	-	-	-	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles;	GNE	GNE	2	1	Johan den Dunnen
00056199	-	-	-	-	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles;	GNE	GNE	2	1	Johan den Dunnen
00056200	-	-	-	-	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles;	GNE	GNE	2	1	Johan den Dunnen
00056201	-	-	-	-	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles;	GNE	GNE	2	1	Johan den Dunnen
00056202	-	-	-	-	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles;	GNE	GNE	2	1	Johan den Dunnen
00056203	-	-	-	-	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles;	GNE	GNE	2	1	Johan den Dunnen
00056204	-	-	-	-	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles;	GNE	GNE	2	1	Johan den Dunnen
00056205	-	-	-	-	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles;	GNE	GNE	2	1	Johan den Dunnen
00056206	-	-	-	-	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles;	GNE	GNE	2	1	Johan den Dunnen
00056207	-	-	-	-	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles;	GNE	GNE	2	1	Johan den Dunnen
00056208	-	-	-	-	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles;	GNE	GNE	2	1	Johan den Dunnen
00056209	-	-	-	-	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles;	GNE	GNE	2	1	Johan den Dunnen
00056210	-	-	-	-	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles;	GNE	GNE	2	1	Johan den Dunnen
00056211	-	-	-	-	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles;	GNE	GNE	2	1	Johan den Dunnen
00056212	-	-	-	-	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles;	GNE	GNE	2	1	Johan den Dunnen
00056213	-	-	-	-	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles;	GNE	GNE	2	1	Johan den Dunnen
00056214	-	-	-	-	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles;	GNE	GNE	2	1	Johan den Dunnen
00056215	-	-	-	-	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles;	GNE	GNE	2	1	Johan den Dunnen
00056216	-	-	-	-	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles;	GNE	GNE	2	1	Johan den Dunnen
00056217	-	-	-	-	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles;	GNE	GNE	2	1	Johan den Dunnen
00056218	-	-	-	-	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles;	GNE	GNE	2	1	Johan den Dunnen
00056219	-	-	-	-	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles;	GNE	GNE	2	1	Johan den Dunnen
00056220	-	-	-	-	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles;	GNE	GNE	2	1	Johan den Dunnen
00056221	-	-	-	-	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles;	GNE	GNE	2	1	Johan den Dunnen
00056222	-	-	-	-	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles;	GNE	GNE	2	1	Johan den Dunnen
00056223	-	-	-	-	-	Japan	-	-	-	-	-	MPD	myopathy, distal, rimmed vacuoles;	GNE	GNE	2	1	Johan den Dunnen
00078770	-	Penttila WMS2010 P1.26, PubMed: Penttila 2012	-	-	-	Finland	-	-	-	-	-	MPD	myopathy, distal, calf; weakness proximal upper/lower limbs	ANO5	ANO5	2	1	Johan den Dunnen
00078772	-	Penttila WMS2010 P1.26, PubMed: Penttila 2012	-	-	-	Finland	-	-	-	-	-	MPD	myopathy, distal, calf; weakness proximal upper/lower limbs	ANO5	ANO5	2	1	Johan den Dunnen
00078773	-	Penttila WMS2010 P1.26, PubMed: Penttila 2012	-	-	-	Finland	-	-	-	-	-	MPD	myopathy, distal, calf; weakness proximal lower limbs, EMG neurogenic	ANO5	ANO5	2	1	Johan den Dunnen
00078774	-	Penttila WMS2010 P1.26, PubMed: Penttila 2012	-	-	-	Finland	-	-	-	-	-	MPD	myopathy, distal, calf; weakness proximal lower limbs	ANO5	ANO5	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	ANO5	ANO5	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	ANO5	ANO5	2	1	Johan den Dunnen
00078777	-	Penttila WMS2010 P1.26, PubMed: Penttila 2012	family, 3 affecteds	M	-	United States	German	-	-	-	-	MPD	myopathy, distal, calf	ANO5	ANO5	2	1	Johan den Dunnen
00078778	-	Penttila WMS2010 P1.26, PubMed: Penttila 2012	-	-	-	Finland	-	-	-	-	-	MPD	myopathy, distal, calf; distal lower limb calf weakness, atrophy	ANO5	ANO5	2	1	Johan den Dunnen
00078779	-	-	-	-	-	United States	-	-	-	-	-	MPD	myopathy, Miyoshi, distal	ANO5	ANO5	2	1	Tom Winder
00078781	-	-	-	M	-	United States	-	-	-	-	-	MPD	myopathy, Miyoshi	ANO5	ANO5	2	1	Tom Winder
00078783	-	-	-	F	-	United States	white	-	-	-	-	MPD	myopathy, Miyoshi; normal dysferlin on biopsy staining	ANO5	ANO5	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	ANO5	ANO5	2	1	Tom Winder
00078785	-	-	-	M	-	United States	white	-	-	-	-	MPD	myopathy, Miyoshi, distal	ANO5	ANO5	2	1	Tom Winder
00078796	-	-	-	F	-	United States	European	-	-	-	-	MPD	progressive distal myopathy	ANO5	ANO5	2	1	Tom Winder
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)	ANO5	ANO5	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)	ANO5	ANO5	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)	ANO5	ANO5	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)	ANO5	ANO5	2	1	Johan den Dunnen
00078844	-	PubMed: Penttila 2012	-	-	-	Finland	-	-	-	-	-	MPD	myopathy, distal, calf	ANO5	ANO5	2	1	Johan den Dunnen
00078847	-	PubMed: Penttila 2012	-	-	-	Finland	-	-	-	-	-	MPD	myopathy, distal, calf; weakness proximal upper/lower limbs	ANO5	ANO5	2	1	Johan den Dunnen
00078848	-	PubMed: Penttila 2012	-	-	-	Finland	-	-	-	-	-	MPD	myopathy, distal, calf; weakness proximal lower limbs	ANO5	ANO5	2	1	Johan den Dunnen
00078849	-	PubMed: Penttila 2012	-	-	-	Finland	-	-	-	-	-	MPD	myopathy, distal, calf; weakness proximal lower limbs	ANO5	ANO5	2	1	Johan den Dunnen
00078850	-	PubMed: Penttila 2012	-	-	-	Finland	-	-	-	-	-	MPD	myopathy, distal, calf; weakness proximal/distal lower limbs	ANO5	ANO5	2	1	Johan den Dunnen
00078851	-	PubMed: Penttila 2012	-	-	-	Finland	-	-	-	-	-	MPD	myopathy, distal, calf	ANO5	ANO5	2	1	Johan den Dunnen
00078852	-	PubMed: Penttila 2012	-	-	-	Finland	-	-	-	-	-	MPD	myopathy, distal, calf	ANO5	ANO5	2	1	Johan den Dunnen
00078853	-	PubMed: Penttila 2012	-	-	-	Finland	-	-	-	-	-	MPD	myopathy, distal, calf	ANO5	ANO5	2	1	Johan den Dunnen
00078854	-	PubMed: Penttila 2012	-	F	-	Finland	-	-	-	-	-	MPD	myopathy, distal, calf; highCK, occasional lymphocytic infiltrations; raised CPK (HP:0003236) high	ANO5	ANO5	2	1	Johan den Dunnen

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Global Variome shared LOVD

GOLGA6A (golgin A6 family, member A)