Disease #00199 (CMT2 (Charcot-Marie-Tooth disease, type 2 (CMT-2)))

Official abbreviation	CMT2
Name	Charcot-Marie-Tooth disease, type 2 (CMT-2)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	239
Phenotype entries for this disease	158
Associated with 1 gene	MORC2
Associated tissues	-
Disease features	-
Remarks	-
Date created	2013-09-13 14:35:15 +02:00 (CEST)
Date last edited	2021-12-11 13:56:28 +01:00 (CET)

Individuals

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.

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Operator	Column type	Example	Matches
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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'

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239 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	Genes screened	Variants in genes	Variants	Panel size	Owner
00002838	-	-	1 affected	-	-	Spain	-	-	-	-	-	CMT2	CMT2 with pyramidal signs	BSCL2	BSCL2	1	1	María-Jesús Sobrido
00011647	-	-	2-generation family, father of 00016304, healthy parents and brother do not carry de novo variant; performed exome/genome analysis, detected possibly causative variant but have not yet sufficient evidence to publish - please contact me	M	no	Netherlands	-	-	1	-	-	CMT2, HYDRO	peripheral neuropathy (demyelinating motor sensory neuropathy ), dysmorphic facial features , hypospadias, craniosynostosis, minor insufficiency of the aortic valve, mild glaucoma, mild learning disabilities	DARS	DARS	1	2	Thomas Potjer
00022372	-	-	-	F	no	China	-	-	-	-	-	CMT2	weakness in lower extremities;mental retardation	DYNC1H1	DYNC1H1	1	1	Ying Zhang
00050079	?	-	-	-	-	Spain	-	-	-	-	-	CMT2	-	AARS	AARS	1	1	Carmen Espinós
00056352	-	-	4-generation family, 4 affecteds	-	-	Italy	-	-	-	-	-	CMT2	axonal CMT	DNM2	DNM2	1	4	Johan den Dunnen
00056354	-	-	4-generation family, 3 affecteds	-	-	Italy	-	-	-	-	-	CMT2	axonal CMT	DNM2	DNM2	1	3	Johan den Dunnen
00056361	-	PubMed: Claeys 2009	2-generation family, 3 affecteds	-	-	Spain	-	-	-	-	-	CMT2	-	DNM2	DNM2	1	3	Johan den Dunnen
00056362	-	PubMed: Claeys 2009	5-generation family, 22 affecteds	-	-	Australia	-	-	-	-	-	CMT2	neutropenia	DNM2	DNM2	1	22	Johan den Dunnen
00056363	-	PubMed: Claeys 2009	4-generation family, 8 affecteds, 1 asymptomatic carrier	-	-	Belgium	-	-	-	-	-	CMT2	neutropenia	DNM2	DNM2	1	9	Johan den Dunnen
00056364	-	-	-	-	-	-	-	-	-	-	-	CMT2	congenital cataracts, ophthalmoparesis, ptosis, neutropenia	DNM2	DNM2	1	1	Johan den Dunnen
00056365	-	-	3-generation family, 3 affecteds, 3 asymptomatic carriers	-	-	Belgium	-	-	-	-	-	CMT2	-	DNM2	DNM2	1	6	Johan den Dunnen
00056366	-	-	6-generation family, 21 affecteds	-	-	United States	-	-	-	-	-	CMT2	-	DNM2	DNM2	1	21	Johan den Dunnen
00056367	-	PubMed: Claeys 2009	3-generation family, 5 affecteds	-	-	Netherlands	-	-	-	-	-	CMT2	-	DNM2	DNM2	1	5	Johan den Dunnen
00056407	-	-	-	M	no	Korea	Korean	-	-	-	-	CMT2	autosomal dominant axonal CMT with early onset, sensory ataxia, tremor, and slow disease progression	DGAT2	DGAT2	1	1	Ki Wha Chung
00056452	-	PubMed: Houlden 2008	2-geenration family, affected boy and possibly affected, deceased mother	M	no	United Kingdom (Great Britain)	-	-	-	-	-	CMT2	see paper; ...	HSPB1	HSPB1	1	1	Johan den Dunnen
00056454	-	PubMed: Houlden 2008	2-generation family, 1 affected, unaffected heterozygous carrier parent/sister	M	yes	Pakistan	-	-	-	-	-	CMT2	see paper; ...	HSPB1	HSPB1	1	1	Johan den Dunnen
00056456	-	PubMed: Benedetti 2010	2-generation family, affected mother daugther	F	no	Italy	-	-	-	-	-	CMT2	Charcot-Marie-Tooth disease 2; see paper ...	HSPB1	HSPB1	1	2	Johan den Dunnen
00056459	-	PubMed: Houlden 2008	4-generation family, affected father/son	M	-	India	-	-	-	-	-	CMT2	see paper; ...	HSPB1	HSPB1	1	2	Johan den Dunnen
00056463	-	PubMed: Luigetti 2010	-	F	no	Italy	-	>19y	-	-	-	CMT2	see paper; wasting and weakness distal muscles, primarily/mostly lower limbs and later upper limbs, ...	HSPB1	HSPB1	1	1	Johan den Dunnen
00056496	-	PubMed: Evgrafov 2004	-	-	no	-	Russian Federation	-	-	-	-	CMT2	-	HSPB1	HSPB1	1	1	Johan den Dunnen
00056497	-	PubMed: Evgrafov 2004	-	-	no	-	Russian Federation	-	-	-	-	CMT2	-	HSPB1	HSPB1	1	1	Johan den Dunnen
00056498	-	PubMed: Evgrafov 2004	-	-	no	-	Russian Federation	-	-	-	-	CMT2	-	HSPB1	HSPB1	1	1	Johan den Dunnen
00056499	-	PubMed: Evgrafov 2004	-	-	no	-	Russian Federation	-	-	-	-	CMT2	-	HSPB1	HSPB1	1	1	Johan den Dunnen
00057162	-	PubMed: Benedetti 2010	-	M	no	Italy	-	>47y	-	-	-	CMT2	see paper; ...	HSPB1	HSPB1	1	1	Johan den Dunnen
00057163	-	PubMed: Benedetti 2010	-	F	no	Italy	-	>52y	-	-	-	CMT2	see paper; ...	HSPB1	HSPB1	1	1	Johan den Dunnen
00057168	-	PubMed: Houlden 2008	9-generation family, 49 affecteds	M;F	no	United Kingdom (Great Britain)	-	-	-	-	-	CMT2	see paper; ...	HSPB1	HSPB1	1	49	Johan den Dunnen
00057169	-	PubMed: Houlden 2008	2-geenration family, 2 affected brothers and possibly affected, deceased father	M	no	United Kingdom (Great Britain)	-	-	-	-	-	CMT2	see paper; ...	HSPB1	HSPB1	1	2	Johan den Dunnen
00057170	-	PubMed: Houlden 2008	2-generation family, 1 affected, untested parents	M	no	India	-	-	-	-	-	CMT2	see paper; ...	HSPB1	HSPB1	1	1	Johan den Dunnen
00057171	-	PubMed: Houlden 2008	2-generation family, 1 affected, untested parents	M	no	India	-	-	-	-	-	CMT2	see paper; ...	HSPB1	HSPB1	1	1	Johan den Dunnen
00063630	-	PubMed: Finsterer 2006	-	-	-	-	-	-	-	-	-	CMT2	-	MPZ	MPZ	1	1	Johan den Dunnen
00063637	-	PubMed: Braathen 2010	-	-	-	-	-	-	-	-	-	CMT2	-	MPZ	MPZ	1	1	Johan den Dunnen
00063643	-	PubMed: Marrosu 1998	-	-	-	-	-	-	-	-	-	CMT2	-	MPZ	MPZ	1	1	Johan den Dunnen
00063648	-	PubMed: Young 2001	-	-	-	-	-	-	-	-	-	CMT2	-	MPZ	MPZ	1	1	Johan den Dunnen
00063652	-	PubMed: Kochanski 2004	-	-	-	-	-	-	-	-	-	CMT2	-	MPZ	MPZ	1	1	Johan den Dunnen
00063655	-	PubMed: Auer-Grumbach 2003	-	-	-	-	-	-	-	-	-	CMT2	-	MPZ	MPZ	1	1	Johan den Dunnen
00063657	-	PubMed: Senderek 2000	-	-	-	-	-	-	-	-	-	CMT2	-	MPZ	MPZ	1	1	Johan den Dunnen
00063659	-	PubMed: Auer-Grumbach 2003	-	-	-	-	-	-	-	-	-	CMT2	-	MPZ	MPZ	1	1	Johan den Dunnen
00063668	-	PubMed: Laura 2007	-	-	-	-	-	-	-	-	-	CMT2	-	MPZ	MPZ	1	1	Johan den Dunnen
00063679	-	PubMed: Bienfait 2006	-	-	-	-	-	-	-	-	-	CMT2	-	MPZ	MPZ	1	1	Johan den Dunnen
00063682	-	PubMed: Boerkoel 2002	-	-	-	-	-	-	-	-	-	CMT2	-	MPZ	MPZ	1	1	Johan den Dunnen
00063684	-	PubMed: Boerkoel 2002	-	-	-	-	-	-	-	-	-	CMT2	-	MPZ	MPZ	1	1	Johan den Dunnen
00063688	-	PubMed: Seeman 2004	-	-	-	-	-	-	-	-	-	CMT2	-	MPZ	MPZ	1	1	Johan den Dunnen
00063702	-	PubMed: Santoro 2004	-	-	-	-	-	-	-	-	-	CMT2	-	MPZ	MPZ	1	1	Johan den Dunnen
00063709	-	PubMed: Choi 2004	-	-	-	-	-	-	-	-	-	CMT2	-	MPZ	MPZ	1	1	Johan den Dunnen
00063711	-	PubMed: Senderek 2000	-	-	-	-	-	-	-	-	-	CMT2	-	MPZ	MPZ	1	1	Johan den Dunnen
00063716	-	PubMed: Mandich 2009	-	-	-	-	-	-	-	-	-	CMT2	-	MPZ	MPZ	1	1	Johan den Dunnen
00063742	-	PubMed: Young 2001	-	-	-	-	-	-	-	-	-	CMT2	-	MPZ	MPZ	1	1	Johan den Dunnen
00063746	-	PubMed: Mandich 2009	-	-	-	-	-	-	-	-	-	CMT2	-	MPZ	MPZ	1	1	Johan den Dunnen
00063754	-	PubMed: Boerkoel 2002	-	-	-	-	-	-	-	-	-	CMT2	-	MPZ	MPZ	1	1	Johan den Dunnen
00063782	-	PubMed: Shimizu 2010	-	-	-	-	-	-	-	-	-	CMT2	-	MPZ	MPZ	1	1	Johan den Dunnen
00063785	-	PubMed: Choi 2004	-	-	-	-	-	-	-	-	-	CMT2	-	MPZ	MPZ	1	1	Johan den Dunnen
00078897	-	-	family, 2 affecteds	F	no	Korea, South (Republic)	Korean	-	-	-	-	CMT2	-	MFN2	MFN2	1	127	Ki Wha Chung
00078905	-	PubMed: Bienfait 2007	-	-	-	-	-	-	-	-	-	CMT2	-	MFN2	MFN2	1	1	Johan den Dunnen
00078909	-	PubMed: McCorquodale 2011	-	-	-	-	-	-	-	-	-	CMT2	-	MFN2	MFN2	1	1	Johan den Dunnen
00078916	-	PubMed: Calvo 2009	-	-	-	-	-	-	-	-	-	CMT2	-	MFN2	MFN2	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	MFN2	MFN2	1	1	Johan den Dunnen
00078920	-	PubMed: Calvo 2009	-	-	-	-	-	-	-	-	-	CMT2	-	MFN2	MFN2	1	1	Johan den Dunnen
00078922	-	PubMed: Zhang 2009	-	-	-	-	-	-	-	-	-	CMT2	-	MFN2	MFN2	1	1	Johan den Dunnen
00078924	-	PubMed: Calvo 2009	-	-	-	-	-	-	-	-	-	CMT2	-	MFN2	MFN2	1	1	Johan den Dunnen
00078930	CMTII-2	PubMed: Casasnovas 2010	family, 5 affected	-	-	Spain	-	-	-	-	-	CMT2	moderate sensory and motor neuropathy, tremor	MFN2	MFN2	1	5	Johan den Dunnen
00078952	CMTII-4	PubMed: Casasnovas 2010	-	-	-	Spain	-	-	-	-	-	CMT2	mild sensory and motor neuropathy	MFN2	MFN2	1	1	Johan den Dunnen
00078953	-	PubMed: Calvo 2009	-	-	-	-	-	-	-	-	-	CMT2	-	MFN2	MFN2	1	1	Johan den Dunnen
00078957	CMT1344	PubMed: Casasnovas 2010	-	-	-	Spain	-	-	-	-	-	CMT2	moderate sensory and motor neuropathy	MFN2	MFN2	1	2	Johan den Dunnen
00078958	-	PubMed: Polke 2011	-	-	-	-	-	-	-	-	-	CMT2	-	MFN2	MFN2	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	MFN2	MFN2	1	1	Johan den Dunnen
00078964	-	PubMed: Calvo 2009	-	-	-	-	-	-	-	-	-	CMT2	-	MFN2	MFN2	1	1	Johan den Dunnen
00078965	-	PubMed: Calvo 2009	-	-	-	-	-	-	-	-	-	CMT2	-	MFN2	MFN2	1	1	Johan den Dunnen
00078967	CMT364	PubMed: Casasnovas 2010	-	-	-	Spain	-	-	-	-	-	CMT2	severe sensory and motor neuropathy	MFN2	MFN2	1	2	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	MFN2	MFN2	1	1	Johan den Dunnen
00078971	-	PubMed: Muglia 2007	-	-	-	-	-	-	-	-	-	CMT2	-	MFN2	MFN2	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	MFN2	MFN2	1	1	Johan den Dunnen
00078982	-	PubMed: Calvo 2009	-	-	-	-	-	-	-	-	-	CMT2	-	MFN2	MFN2	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	MFN2	MFN2	1	1	Johan den Dunnen
00078987	-	PubMed: Braathen 2010	-	-	-	-	-	-	-	-	-	CMT2	-	MFN2	MFN2	1	1	Johan den Dunnen
00078992	-	PubMed: Calvo 2009	-	-	-	-	-	-	-	-	-	CMT2	-	MFN2	MFN2	1	1	Johan den Dunnen
00078993	-	PubMed: Calvo 2009	-	-	-	-	-	-	-	-	-	CMT2	-	MFN2	MFN2	1	1	Johan den Dunnen
00078994	-	PubMed: Calvo 2009	-	-	-	-	-	-	-	-	-	CMT2	-	MFN2	MFN2	1	1	Johan den Dunnen
00079001	-	PubMed: McCorquodale 2011	-	-	-	-	-	-	-	-	-	CMT2	-	MFN2	MFN2	1	1	Johan den Dunnen
00079002	Pat6	PubMed: Engelfried 2006	-	M	-	Germany	-	-	-	-	-	CMT2	see paper; ..., 62y-gait ataxia; symmetric distal weakness, increased distal paresis legs, symmetric distal weakness, increased distal paresis legs; no family history	MFN2	MFN2	1	1	Johan den Dunnen
00088979	-	PubMed: Zhao 2001	4-generation family, 4 affecteds (2F, 2M)	F;M	no	Japan	-	-	-	-	-	CMT2	Charcot-Marie-Tooth disease 2a	KIF1B	KIF1B	1	4	Johan den Dunnen
00103697	?	PubMed: Kabzinska 2010	-	-	-	-	-	-	-	-	-	CMT2	Charcot-Marie-Tooth disease 2	GDAP1	GDAP1	1	1	Johan den Dunnen
00103707	?	PubMed: Kabzinska 2010	-	-	-	-	-	-	-	-	-	CMT2	Charcot-Marie-Tooth disease 2	GDAP1	GDAP1	1	1	Johan den Dunnen
00132190	-	-	-	M	no	Germany	-	-	-	-	-	CMT2	-	-	REEP1	1	1	Christian Beetz
00155739	29499166-Fam1	PubMed: Lassuthova 2018	4-generation family, 13 affecteds (5F, 8M)	-	no	Czech Republic	-	-	-	-	-	CMT2	see paper; ...	ATP1A1	ATP1A1	1	13	Johan den Dunnen
00155740	29499166-Fam2	PubMed: Lassuthova 2018	5-generation family, 15 affecteds (9F, 6M)	F;M	-	Italy	-	-	-	-	-	CMT2	see paper; ...	ATP1A1	ATP1A1	1	15	Johan den Dunnen
00155741	29499166-Fam3	PubMed: Lassuthova 2018	4-generation family, 8 affecteds (4F, 4M)	F;M	-	United States	-	-	-	-	-	CMT2	see paper; ...	ATP1A1	ATP1A1	1	8	Johan den Dunnen
00155742	29499166-Fam4	PubMed: Lassuthova 2018	4-generation family, 6 affecteds (2F, 4M)	F;M	-	(United Kingdom (Great Britain))	-	-	-	-	-	CMT2	see paper; ...	ATP1A1	ATP1A1	1	6	Johan den Dunnen
00155743	29499166-Fam5	PubMed: Lassuthova 2018	3-generation family, 5 affecteds (2F, 3M)	F;M	-	Australia	-	-	-	-	-	CMT2	-	ATP1A1	ATP1A1	1	5	Johan den Dunnen
00155744	29499166-Fam6	PubMed: Lassuthova 2018	4-generation family, 6 affecteds (2F, 4M)	F;M	no	Australia	-	-	-	-	-	CMT2	-	ATP1A1	ATP1A1	1	6	Johan den Dunnen
00155745	29499166-Fam7	PubMed: Lassuthova 2018	2-generation family, 1 affected, unaffected non-carrier mother	M	-	Korea	-	-	-	-	-	CMT2	-	ATP1A1	ATP1A1	1	1	Johan den Dunnen
00210530	-	PubMed: Jordanova 2003	-	-	-	-	-	-	-	-	-	CMT2	-	NEFL	NEFL	1	1	Johan den Dunnen
00210531	-	PubMed: Jordanova 2003	-	-	-	-	-	-	-	-	-	CMT2	-	NEFL	NEFL	1	1	Johan den Dunnen
00210532	-	PubMed: Jordanova 2003	-	-	-	-	-	-	-	-	-	CMT2	-	NEFL	NEFL	1	1	Johan den Dunnen
00210533	-	PubMed: Jordanova 2003	-	-	-	-	-	-	-	-	-	CMT2	-	NEFL	NEFL	1	1	Johan den Dunnen
00210534	-	PubMed: Jordanova 2003	-	-	-	-	-	-	-	-	-	CMT2	-	NEFL	NEFL	1	1	Johan den Dunnen
00210535	-	PubMed: Miltenberger-Miltenyi 2007	-	-	-	-	-	-	-	-	-	CMT2	-	NEFL	NEFL	1	1	Johan den Dunnen
00210540	-	PubMed: Georgiou 2002	-	-	-	-	-	-	-	-	-	CMT2	-	NEFL	NEFL	1	1	Johan den Dunnen
00210542	-	PubMed: Fabrizi 2007	-	-	-	-	-	-	-	-	-	CMT2	-	NEFL	NEFL	1	1	Johan den Dunnen
00210543	-	PubMed: Mersiyanova 2000	-	-	-	-	-	-	-	-	-	CMT2	-	NEFL	NEFL	1	1	Johan den Dunnen
00210544	-	PubMed: Choi 2004	-	-	-	-	-	-	-	-	-	CMT2	-	NEFL	NEFL	1	1	Johan den Dunnen

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Global Variome shared LOVD

GNPDA2 (glucosamine-6-phosphate deaminase 2)