Disease #01926 (MEOAL;MMDS8 (mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy), OMIM:251900)

Official abbreviation	MEOAL;MMDS8
Name	mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
OMIM ID	251900
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	44
Phenotype entries for this disease	43
Associated with 1 gene	FDX1L
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2024-11-25 10:11:25 +01:00 (CET)

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
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Argentina
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Armenia
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Aruba
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Australia
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Austria
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Azerbaijan
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Bahamas
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Bahrain
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Bangladesh
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Barbados
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Belarus
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Belgium
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Belize
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Benin
(Benin)
Bermuda
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Bhutan
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Bolivia
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Bosnia and Herzegovina
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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
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Cayman Islands
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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
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Denmark
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Djibouti
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Dominica
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Dominican Republic
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East Timor
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Ecuador
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Egypt
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El Salvador
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England
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Equatorial Guinea
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Eritrea
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Estonia
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Ethiopia
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Falkland Islands (Malvinas)
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Faroe Islands
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Fiji
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Finland
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France
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Gabon
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Gambia
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Georgia
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Germany
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Ghana
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Gibraltar
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Greece
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Greenland
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Grenada
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Guadeloupe
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Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
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Haiti
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Heard and McDonald Islands
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Honduras
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Hong Kong
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Hungary
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Iceland
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India
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Indonesia
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Iran
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Iraq
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Ireland
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Israel
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Italy
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Jamaica
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Japan
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Jordan
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Kazakhstan
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Kenya
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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
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Latvia
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Lebanon
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Lesotho
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Liberia
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Libya
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Liechtenstein
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Lithuania
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Luxembourg
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Macau
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Macedonia
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Madagascar
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Malawi
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Malaysia
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Maldives
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Mali
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Mayotte
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Mexico
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Micronesia
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Morocco
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Mozambique
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Namibia
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Nepal
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Neutral Zone (Saudia Arabia/Iraq)
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New Zealand
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Nigeria
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Northern Ireland
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Northern Mariana Islands
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Norway
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Oman
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Pakistan
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Palau
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Palestine
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Panama
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Papua New Guinea
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Paraguay
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Peru
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Pitcairn
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Poland
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Polynesia, French
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Portugal
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Puerto Rico
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Qatar
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Reunion
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Romania
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Russia
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Russian Federation
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Rwanda
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S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
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Saint Lucia
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Saint Vincent and The Grenadines
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Samoa
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San Marino
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Sao Tome and Principe
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Saudi Arabia
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Scotland
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Senegal
(Senegal)
Serbia
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Seychelles
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Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
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Somalia
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South Africa
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Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
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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
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Syria
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Taiwan
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Tajikistan
(Tajikistan)
Tanzania
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Thailand
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Togo
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Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
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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
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Viet Nam
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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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44 entries on 1 page. Showing entries 1 - 44.

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How to query

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
00022414	25385316-FamPatII1	PubMed: Vanlander 2015, Journal: Vanlander 2015	2-generation family, 2 affecteds (F, M), unaffected heterozygous carrier parents	F	yes	Morocco	African	>34y	-	-	-	MEOAL;MMDS8	myopathy characterized by proximal muscle weakness, severe amyotrophy, excessive fatigability, dysarthria, paresis of facial muscles and ptosis	NARS2	NARS2	1	2	Arnaud Vanlander
00035071	-	-	-	-	-	Germany	-	-	-	-	-	MEOAL;MMDS8	myalgia (belastungsabhängig), muscle stiffness	CACNA1S	CACNA1S	1	1	Andreas Laner
00035223	-	-	-	-	-	Germany	-	-	-	-	-	MEOAL;MMDS8	myasthenia	CHRND	CHRND	1	1	Andreas Laner
00035227	-	-	-	-	-	Germany	-	-	-	-	-	MEOAL;MMDS8	muscular hypotonia, developmental delay	CHRND	CHRND	1	1	Andreas Laner
00035229	-	-	-	-	-	Germany	-	-	-	-	-	MEOAL;MMDS8	muscular hypotonia (aggravation with heat), mild CK-increase, path. rep. stimulation of N. accessorius bilateral,	CHRNE	CHRNE	1	1	Andreas Laner
00035256	-	-	-	-	-	Germany	-	-	-	-	-	MEOAL;MMDS8	muscle stiffness and muscle pain	CLCN1	CLCN1	1	1	Andreas Laner
00035318	-	-	-	-	-	Germany	-	-	-	-	-	MEOAL;MMDS8	mitochondrial myopathy	COL4A1	COL4A1	1	1	Andreas Laner
00035321	-	-	-	-	-	Germany	-	-	-	-	-	MEOAL;MMDS8	mitochondrial myopathy	COL4A1	COL4A1	1	1	Andreas Laner
00035323	-	-	-	-	-	Germany	-	-	-	-	-	MEOAL;MMDS8	mitochondrial myopathy	COL4A1	COL4A1	1	1	Andreas Laner
00035327	-	-	-	-	-	Germany	-	-	-	-	-	MEOAL;MMDS8	mitochondrial myopathy	COL4A1	COL4A1	1	1	Andreas Laner
00035328	-	-	-	-	-	Germany	-	-	-	-	-	MEOAL;MMDS8	mitochondrial myopathy	COL4A1	COL4A1	1	1	Andreas Laner
00035329	-	-	-	-	-	Germany	-	-	-	-	-	MEOAL;MMDS8	mitochondrial myopathy	COL4A1	COL4A1	1	1	Andreas Laner
00035330	-	-	-	-	-	Germany	-	-	-	-	-	MEOAL;MMDS8	mitochondrial myopathy	COL4A1	COL4A1	1	1	Andreas Laner
00035331	-	-	-	-	-	Germany	-	-	-	-	-	MEOAL;MMDS8	mitochondrial myopathy	COL4A1	COL4A1	1	1	Andreas Laner
00035332	-	-	-	-	-	Germany	-	-	-	-	-	MEOAL;MMDS8	mitochondrial myopathy	COL4A1	COL4A1	1	1	Andreas Laner
00035333	-	-	-	-	-	Germany	-	-	-	-	-	MEOAL;MMDS8	mitochondrial myopathy	COL4A1	COL4A1	1	1	Andreas Laner
00035334	-	-	-	-	-	Germany	-	-	-	-	-	MEOAL;MMDS8	mitochondrial myopathy	COL4A1	COL4A1	1	1	Andreas Laner
00035335	-	-	-	-	-	Germany	-	-	-	-	-	MEOAL;MMDS8	mitochondrial myopathy	COL4A1	COL4A1	1	1	Andreas Laner
00035336	-	-	-	-	-	Germany	-	-	-	-	-	MEOAL;MMDS8	mitochondrial myopathy	COL4A1	COL4A1	1	1	Andreas Laner
00035337	-	-	-	-	-	Germany	-	-	-	-	-	MEOAL;MMDS8	mitochondrial myopathy	COL4A1	COL4A1	1	1	Andreas Laner
00035338	-	-	-	-	-	Germany	-	-	-	-	-	MEOAL;MMDS8	mitochondrial myopathy	COL4A1	COL4A1	1	1	Andreas Laner
00035340	-	-	-	-	-	Germany	-	-	-	-	-	MEOAL;MMDS8	mitochondrial myopathy	COL4A1	COL4A1	1	1	Andreas Laner
00035341	-	-	-	-	-	Germany	-	-	-	-	-	MEOAL;MMDS8	mitochondrial myopathy	COL4A1	COL4A1	1	1	Andreas Laner
00035342	-	-	-	-	-	Germany	-	-	-	-	-	MEOAL;MMDS8	mitochondrial myopathy	COL4A1	COL4A1	1	1	Andreas Laner
00035343	-	-	-	-	-	Germany	-	-	-	-	-	MEOAL;MMDS8	mitochondrial myopathy	COL4A1	COL4A1	1	1	Andreas Laner
00035356	-	-	-	-	-	Germany	-	-	-	-	-	MEOAL;MMDS8	Multiple hemorrhagic porencephalic brain lesions, at birth transient platelet defiency with petechiae, mild facial dysmorphism	COL4A1	COL4A1	1	1	Andreas Laner
00035811	-	-	-	-	-	Germany	-	-	-	-	-	MEOAL;MMDS8	Muenke syndrome	FGFR3	FGFR3	1	1	Andreas Laner
00035820	-	-	-	-	-	Germany	-	-	-	-	-	MEOAL;MMDS8	mother: autosomal dominante hereditary leiomyomatosis	FH	FH	1	1	Andreas Laner
00036041	77186	-	-	M	?	Libya	-	-	-	-	-	MD, MDC, MEOAL;MMDS8	, Muscular Dystrophy, no further information	LAMA2	LAMA2	2	1	Andreas Laner
00036083	-	-	-	-	-	Germany	-	-	-	-	-	MEOAL;MMDS8	myalgia	LPIN1	LPIN1	1	1	Andreas Laner
00036241	-	-	-	-	-	Germany	-	-	-	-	-	MEOAL;MMDS8	mother: Muir-Torre syndrome	MSH2	MSH2	1	1	Andreas Laner
00036786	-	-	-	-	-	Germany	-	-	-	-	-	MEOAL;MMDS8	mother healthy, result of daughter: suspected Dravet syndrome	SCN1A	SCN1A	1	1	Andreas Laner
00036925	-	-	-	-	-	Germany	-	-	-	-	-	MEOAL;MMDS8	muscle disease	SCN4A	SCN4A	1	1	Andreas Laner
00036931	-	-	-	-	-	Germany	-	-	-	-	-	MEOAL;MMDS8	mother: myotonia; son: muscle pain (cramps in hand- and foot muscles	SCN4A	SCN4A	1	1	Andreas Laner
00037009	-	-	-	-	-	Germany	-	-	-	-	-	MEOAL;MMDS8	mitochondrial myopathy type I; succinat dehydrogenase deficiency	SDHC	SDHC	1	1	Andreas Laner
00037098	-	-	-	-	-	Germany	-	-	-	-	-	MEOAL;MMDS8	moderate anemia,neutropenia, bilateral sensorineural deafness, heart disease	SLC19A2	SLC19A2	1	1	Andreas Laner
00037223	-	-	-	-	-	Germany	-	-	-	-	-	MEOAL;MMDS8	myasthenia, short stature, mikrocephaly, speech disorder, suspected Barth syndrome	TAZ	TAZ	1	1	Andreas Laner
00037308	-	-	-	-	-	Germany	-	-	-	-	-	MEOAL;MMDS8	MNGIE	TYMP	TYMP	1	1	Andreas Laner
00037448	-	-	-	-	-	Germany	-	-	-	-	-	MEOAL;MMDS8	Mowat-Wilson syndrome	ZEB2	ZEB2	1	1	Andreas Laner
00037522	-	Reinson (submitted)	-	F	no	Estonia	-	-	-	yes	-	MEOAL;MMDS8	severe congenital muscular hypotonia	SLC25A4	SLC25A4	1	1	Sander Pajusalu
00087232	FamAPatII1	PubMed: Nasca 2017	2-generation family, 2 affected sisters, unaffected heterozygous carrier parents	F	no	Italy	-	-	-	-	-	MEOAL;MMDS8	see paper; ..., congenital myopathy, ataxia, skeletal abnormalities, Cesarean section due tonon-reassuring fetal status, slight neonatal asphyxia (Apgar score 5/7), intact in first months after birth; severe growth delay, severe motor delay; severe growth impairment (<3rd percentile); no intellectual disability; no seizure; muscle weakness; tremor; dysmetry; adiadochokinesia; walking disturbance; pgmentary retinopathy, papillary pallor; triangular face, sunken eyes, chest asymmetry; raised CK (1200U/L); muscle biopsy myopathic; MRI global cerebellar hypotrophy, enlarged cisterna magna, hyperintense signals in the supra-tentorial periventricular and posterior white matter	MSTO1	MSTO1	2	2	Daniele Ghezzi
00301614	-	-	affected patient with heteroplasmic variant in mitochondrial DNA	M	-	Greece	-	17y	-	-	-	MEOAL;MMDS8	-	MT-ND6	-	1	1	Helen Latsoudis
00375185	FamBPatII2	PubMed: Nasca 2017	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	-	-	-	-	-	-	MEOAL;MMDS8	see paper; ..., reluctance to stand and walk unsupported, speech acquisition delay; no intellectual disability; no seizure; muscle weakness; tremor; dysmetry; adiadochokinesia; walking disturbance; ophthalomology normal; tightness Achilles tendons; raised CK (5420 IU/L; 3y6m-MRI hypoplasia cerebellar vermis and hemispheres	MSTO1	MSTO1	2	1	Johan den Dunnen
00375186	FamPatII1	PubMed: Gal 2017	2-generation family, affected mother, daughter and 2 sons	F	no	Hungary	-	-	-	-	-	MEOAL;MMDS8	see paper; ..., mitochondrial myopathy, ataxia, muscle weakness; short stature (150 cm); no seizure; adiadochokinesia; ophthalmology normal; normal CK; muscle biopsy myopathic; frontal atrophy, enlarged interhemispheric fissure	-	MSTO1	1	4	Johan den Dunnen

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Global Variome shared LOVD

JPH1 (junctophilin 1)