All individuals with variants in gene MFN2

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.

225 entries on 3 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3		Next ›	Last »

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00000019	-	PubMed: Almomani 2011	-	-	-	-	-	-	-	-	-	autism, BMD/DMD, TSC	-	1	1	Global Variome, with Curator vacancy
00003021	-	PubMed: Neveling 2013	-	-	-	-	-	-	-	-	-	?	Myopathy, psychiatric problems	1	1	Marcel Nelen
00036119	-	-	-	-	-	Germany	-	-	-	-	-	CMT	Charcot-Marie-Tooth disease (CMT)	1	1	Andreas Laner
00036120	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036121	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036122	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036123	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036124	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036125	-	-	-	-	-	Germany	-	-	-	-	-	CMT	early onset axonal	1	1	Andreas Laner
00036126	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036127	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected HSMN type 2 and suspected hereditary PNP, family history: positiv (mother affected)	1	1	Andreas Laner
00036128	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036129	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036130	-	-	-	-	-	Germany	-	-	-	-	-	?	axonal sensomotorical neuropathy (cerebelar)	1	1	Andreas Laner
00036131	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036132	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00078888	-	-	-	F	-	-	-	-	-	-	-	CMT	-	2	1	Alessandro Geroldi
00078889	-	-	-	F	-	-	-	-	-	-	-	CMT	-	2	1	Alessandro Geroldi
00078897	-	-	family, 2 affecteds	F	no	Korea, South (Republic)	Korean	-	-	-	-	CMT2	-	1	127	Ki Wha Chung
00078905	-	PubMed: Bienfait 2007	-	-	-	-	-	-	-	-	-	CMT2	-	1	1	Johan den Dunnen
00078906	-	PubMed: Zuchner 2004	-	-	-	-	-	-	-	-	-	CMT2A2A	-	1	1	Johan den Dunnen
00078907	-	PubMed: Zuchner 2004	-	-	-	-	-	-	-	-	-	CMT2A2A	-	1	1	Johan den Dunnen
00078908	-	PubMed: Chung 2006	-	-	-	-	-	-	-	-	-	CMT2A2A	-	1	1	Johan den Dunnen
00078909	-	PubMed: McCorquodale 2011	-	-	-	-	-	-	-	-	-	CMT2	-	1	1	Johan den Dunnen
00078910	-	PubMed: Zuchner 2006	-	-	-	-	-	-	-	-	-	CMT2A2A	-	1	1	Johan den Dunnen
00078911	-	PubMed: Zuchner 2004	-	-	-	-	-	-	-	-	-	CMT2A2A	-	1	1	Johan den Dunnen
00078912	-	PubMed: Vallat 2008	-	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00078913	-	PubMed: Verhoeven 2006	-	-	-	-	-	-	-	-	-	CMT2A2A	-	1	1	Johan den Dunnen
00078914	-	PubMed: Brockmann 2008	-	-	-	-	-	-	-	-	-	CMT2A2A	-	1	1	Johan den Dunnen
00078915	-	PubMed: Kijima 2005	-	-	-	-	-	-	-	-	-	CMT2A2A	-	1	1	Johan den Dunnen
00078916	-	PubMed: Calvo 2009	-	-	-	-	-	-	-	-	-	CMT2	-	1	1	Johan den Dunnen
00078917	-	PubMed: Verhoeven 2006	-	-	-	-	-	-	-	-	-	CMT2A2A	-	1	1	Johan den Dunnen
00078918	-	PubMed: Chung 2006	-	-	-	-	-	-	-	-	-	CMT2A2A	-	1	1	Johan den Dunnen
00078919	Pat1	PubMed: Engelfried 2006	family, only proband available	F	-	Germany	-	-	-	-	-	CMT2	see paper; ..., predominant axonal neuropathy, normal motor nerve conduction velocity median nerve; positive family history; 48y-weakness lower extremities; reflexes normal in upper extremities, decreased knee, absent ankle, pes cavus/varus	1	1	Johan den Dunnen
00078920	-	PubMed: Calvo 2009	-	-	-	-	-	-	-	-	-	CMT2	-	1	1	Johan den Dunnen
00078921	-	PubMed: Fischer 2011	-	-	-	-	-	-	-	-	-	CMT1	-	1	1	Johan den Dunnen
00078922	-	PubMed: Zhang 2009	-	-	-	-	-	-	-	-	-	CMT2	-	1	1	Johan den Dunnen
00078923	-	PubMed: Klein 2011	-	-	-	-	-	-	-	-	-	CMT2A2A	-	1	1	Johan den Dunnen
00078924	-	PubMed: Calvo 2009	-	-	-	-	-	-	-	-	-	CMT2	-	1	1	Johan den Dunnen
00078925	-	PubMed: Nicholson 2008	-	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00078926	-	PubMed: Zhu 2005	-	-	-	-	-	-	-	-	-	CMT2A2A	-	1	1	Johan den Dunnen
00078927	-	PubMed: Verhoeven 2006	-	-	-	-	-	-	-	-	-	CMT2A2A	-	1	1	Johan den Dunnen
00078928	-	PubMed: Chung 2006	-	-	-	-	-	-	-	-	-	CMT2A2A	-	1	1	Johan den Dunnen
00078929	-	PubMed: Marchesi 2011	-	-	-	-	-	-	-	-	-	CMT2A2A	-	1	1	Johan den Dunnen
00078930	CMTII-2	PubMed: Casasnovas 2010	family, 5 affected	-	-	Spain	-	-	-	-	-	CMT2	moderate sensory and motor neuropathy, tremor	1	5	Johan den Dunnen
00078931	-	PubMed: Zuchner 2006	-	-	-	-	-	-	-	-	-	CMT2A2A	-	1	1	Johan den Dunnen
00078932	-	PubMed: Lawson 2005	-	-	-	-	-	-	-	-	-	CMT2A2A	-	1	1	Johan den Dunnen
00078933	-	PubMed: Nicholson 2008	-	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00078934	-	PubMed: Vallat 2008	-	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00078935	-	PubMed: Kijima 2005	-	-	-	-	-	-	-	-	-	CMT2A2A	-	1	1	Johan den Dunnen
00078936	-	PubMed: Sole 2009	-	-	-	-	-	-	-	-	-	CMT2A2A	-	1	1	Johan den Dunnen
00078937	-	PubMed: Kijima 2005	-	-	-	-	-	-	-	-	-	CMT2A2A	-	1	1	Johan den Dunnen
00078938	-	PubMed: Amiott 2008	-	-	-	-	-	-	-	-	-	CMT2A2A	-	1	1	Johan den Dunnen
00078939	-	PubMed: Kijima 2005	-	-	-	-	-	-	-	-	-	CMT2A2A	-	1	1	Johan den Dunnen
00078940	-	PubMed: Feely 2011	-	-	-	-	-	-	-	-	-	CMT2A2A	-	1	1	Johan den Dunnen
00078941	-	PubMed: Abe 2011	-	-	-	-	-	-	-	-	-	CMT2A2A	-	1	1	Johan den Dunnen
00078942	-	PubMed: Verhoeven 2006	-	-	-	-	-	-	-	-	-	CMT2A2A	-	1	1	Johan den Dunnen
00078943	-	PubMed: Verhoeven 2006	-	-	-	-	-	-	-	-	-	CMT2A2A	-	1	1	Johan den Dunnen
00078944	-	PubMed: Zuchner 2004	-	-	-	-	-	-	-	-	-	CMT2A2A	-	1	1	Johan den Dunnen
00078945	-	PubMed: Feely 2011	-	-	-	-	-	-	-	-	-	CMT2A2A	-	1	1	Johan den Dunnen
00078947	-	PubMed: Ajroud-Driss 2009	-	-	-	-	-	-	-	-	-	CMT2A2A	-	1	1	Johan den Dunnen
00078948	-	PubMed: Chung 2006	-	-	-	-	-	-	-	-	-	CMT2A2A	-	1	1	Johan den Dunnen
00078949	-	PubMed: Lawson 2005	-	-	-	-	-	-	-	-	-	CMT2A2A	-	1	1	Johan den Dunnen
00078950	-	PubMed: Kijima 2005	-	-	-	-	-	-	-	-	-	CMT2A2A	-	1	1	Johan den Dunnen
00078951	-	PubMed: Zuchner 2006	-	-	-	-	-	-	-	-	-	CMT2A2A	-	1	1	Johan den Dunnen
00078952	CMTII-4	PubMed: Casasnovas 2010	-	-	-	Spain	-	-	-	-	-	CMT2	mild sensory and motor neuropathy	1	1	Johan den Dunnen
00078953	-	PubMed: Calvo 2009	-	-	-	-	-	-	-	-	-	CMT2	-	1	1	Johan den Dunnen
00078954	-	PubMed: Verhoeven 2006	-	-	-	-	-	-	-	-	-	CMT2A2A	-	1	1	Johan den Dunnen
00078955	-	PubMed: Zuchner 2004	-	-	-	-	-	-	-	-	-	CMT2A2A	-	1	1	Johan den Dunnen
00078956	-	PubMed: Kijima 2005	-	-	-	-	-	-	-	-	-	CMT2A2A	-	1	1	Johan den Dunnen
00078957	CMT1344	PubMed: Casasnovas 2010	-	-	-	Spain	-	-	-	-	-	CMT2	moderate sensory and motor neuropathy	1	2	Johan den Dunnen
00078958	-	PubMed: Polke 2011	-	-	-	-	-	-	-	-	-	CMT2	-	1	1	Johan den Dunnen
00078959	Pat3	PubMed: Engelfried 2006	-	M	-	Germany	-	-	-	-	-	CMT2	see paper; ..., distal atrophy legs since childhood, high-grade paresis of peroneus muscles both legs, severe pain both legs and distal sensory loss; electrophysiological studies indicate axonal neuropathy with mildly decreased mNCV; reflexes normal in upper extremities absent in ankles; pes cavus/varus;; no family history	1	1	Johan den Dunnen
00078960	-	PubMed: Cho 2007	-	-	-	-	-	-	-	-	-	CMT2A2A	-	1	1	Johan den Dunnen
00078961	-	PubMed: Kijima 2005	-	-	-	-	-	-	-	-	-	CMT2A2A	-	1	1	Johan den Dunnen
00078962	-	PubMed: Zuchner 2006	-	-	-	-	-	-	-	-	-	CMT2A2A	-	1	1	Johan den Dunnen
00078963	-	PubMed: Chung 2006	-	-	-	-	-	-	-	-	-	CMT2A2A	-	1	1	Johan den Dunnen
00078964	-	PubMed: Calvo 2009	-	-	-	-	-	-	-	-	-	CMT2	-	1	1	Johan den Dunnen
00078965	-	PubMed: Calvo 2009	-	-	-	-	-	-	-	-	-	CMT2	-	1	1	Johan den Dunnen
00078966	-	PubMed: McCorquodale 2011	-	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00078967	CMT364	PubMed: Casasnovas 2010	-	-	-	Spain	-	-	-	-	-	CMT2	severe sensory and motor neuropathy	1	2	Johan den Dunnen
00078968	-	PubMed: Chung 2006	-	-	-	-	-	-	-	-	-	CMT2A2A	-	1	1	Johan den Dunnen
00078969	Pat2	PubMed: Engelfried 2006	patient	M	-	Germany	-	-	-	-	-	CMT2	see paper; ..., 22y-muscle cramps lower extremities; distal sensory loss legs, reflexes normal in upper extremities, absent Achilles' tendon reflexes, pes cavus, severely reduced amplitudes compound motor nerve action potentials peroneal and tibial nerves, but preserved motor nerve conduction velocities; mother, brother and sister reportedly have similar symptom	1	1	Johan den Dunnen
00078970	-	PubMed: Brockmann 2008	-	-	-	-	-	-	-	-	-	CMT2A2A	-	1	1	Johan den Dunnen
00078971	-	PubMed: Muglia 2007	-	-	-	-	-	-	-	-	-	CMT2	-	1	1	Johan den Dunnen
00078972	-	PubMed: Nicholson 2008	-	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00078973	-	PubMed: Feely 2011	-	-	-	-	-	-	-	-	-	CMT2A2A	-	1	1	Johan den Dunnen
00078974	-	PubMed: Verhoeven 2006	-	-	-	-	-	-	-	-	-	CMT2A2A	-	1	1	Johan den Dunnen
00078975	-	PubMed: Baets 2011	-	-	-	-	-	-	-	-	-	HMSN	-	1	1	Johan den Dunnen
00078976	-	PubMed: Kijima 2005	-	-	-	-	-	-	-	-	-	CMT2A2A	-	1	1	Johan den Dunnen
00078977	-	PubMed: Kijima 2005	-	-	-	-	-	-	-	-	-	CMT2A2A	-	1	1	Johan den Dunnen
00078978	-	PubMed: Chung 2008	-	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00078979	Pat4	PubMed: Engelfried 2006	2-generation family, affected daughter/father	F	-	Germany	-	-	-	-	-	CMT2	see paper; ..., distal weakness, atrophy legs, distal sensory loss, decreased mNCV; 26y-paraesthesia lower extremities; reflexes normal in upper extremities, absent knee, absent ankle, pes cavus/varus; father Parkinson disease and distal neuropathy, paternal grandfather pes cavus	1	1	Johan den Dunnen
00078980	-	PubMed: Polke 2011	-	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00078981	-	PubMed: Braathen 2010	-	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00078982	-	PubMed: Calvo 2009	-	-	-	-	-	-	-	-	-	CMT2	-	1	1	Johan den Dunnen
00078983	Pat5	PubMed: Engelfried 2006	-	F	-	Germany	-	-	-	-	-	CMT2	see paper; ..., 6y-peripheral neuropathy; distal weakness and atrophy lower and upper extremities, drop feet, steppage gait, absent Achilles' tendon reflexes absent knee reflexes, distal sensory loss lower extremities, decreased sensitivity to vibration both ankles, pes cavus/varus; deceased father andbrother similar symptoms	1	1	Johan den Dunnen
00078984	-	PubMed: Nicholson 2008	-	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00078985	-	PubMed: Verhoeven 2006	-	-	-	-	-	-	-	-	-	CMT2A2A	-	1	1	Johan den Dunnen
00078986	-	PubMed: Benedetti 2010	-	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen

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Global Variome shared LOVD

MFN2 (mitofusin 2)