Disease #05113 (CMT (Charcot-Marie-Tooth disease (CMT)))

Official abbreviation	CMT
Name	Charcot-Marie-Tooth disease (CMT)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	957
Phenotype entries for this disease	895
Associated with 7 genes	ATP1A1, DHX9, MFN2, MORC2, PLEKHG5, TRIM2, VWA1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2016-01-11 01:40:57 +01:00 (CET)
Date last edited	N/A

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.

How to query this table

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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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957 entries on 10 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6	7	8	9	10		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
00036119	-	-	-	-	-	Germany	-	-	-	-	-	CMT	Charcot-Marie-Tooth disease (CMT)	MFN2	MFN2	1	1	Andreas Laner
00036125	-	-	-	-	-	Germany	-	-	-	-	-	CMT	early onset axonal	MFN2	MFN2	1	1	Andreas Laner
00037079	-	-	-	-	-	Germany	-	-	-	-	-	CMT	Charcot-Marie-Tooth disease (CMT)	SH3TC2	SH3TC2	1	1	Andreas Laner
00056469	-	PubMed: Zhang 2005	-	?	?	China	-	-	-	-	-	CMT	-	HSPB8	HSPB8	1	2	Johan den Dunnen
00056471	-	PubMed: Soong 2013	4-generation family, 8 affecteds	-	no	China	-	-	-	-	-	CMT	Charcot-Marie-Tooth disease (CMT)	GNB4	GNB4	1	8	Johan den Dunnen
00056472	-	PubMed: Soong 2013	2-generation family, unaffected parents	F	-	China	-	>9y	-	-	-	CMT	slowly progressive weakness distal lower limbs	GNB4	GNB4	1	1	Johan den Dunnen
00063633	-	PubMed: Miltenberger-Miltenyi 2009	-	-	-	-	-	-	-	-	-	CMT	-	MPZ	MPZ	1	1	Johan den Dunnen
00063635	-	PubMed: Miltenberger-Miltenyi 2009	-	-	-	-	-	-	-	-	-	CMT	-	MPZ	MPZ	1	1	Johan den Dunnen
00063636	-	PubMed: Gabreels-Festen 1996	-	-	-	-	-	-	-	-	-	CMT	-	MPZ	MPZ	1	1	Johan den Dunnen
00063644	-	PubMed: Brozková 2010	-	-	-	-	-	-	-	-	-	CMT	-	MPZ	MPZ	1	1	Johan den Dunnen
00063646	-	PubMed: Miltenberger-Miltenyi 2009	-	-	-	-	-	-	-	-	-	CMT	-	MPZ	MPZ	1	1	Johan den Dunnen
00063647	-	PubMed: Shy 2004	-	-	-	-	-	-	-	-	-	CMT	-	MPZ	MPZ	1	1	Johan den Dunnen
00063650	-	PubMed: Haites 1998	-	-	-	-	-	-	-	-	-	CMT	-	MPZ	MPZ	1	1	Johan den Dunnen
00063656	-	PubMed: Bellone 2001	-	-	-	-	-	-	-	-	-	CMT	-	MPZ	MPZ	1	1	Johan den Dunnen
00063666	-	PubMed: Hisama 2005	-	-	-	-	-	-	-	-	-	CMT	-	MPZ	MPZ	1	1	Johan den Dunnen
00063669	-	PubMed: Nicolaou 2010	-	-	-	-	-	-	-	-	-	CMT	-	MPZ	MPZ	1	1	Johan den Dunnen
00063672	-	PubMed: Misu 2000	-	-	-	-	-	-	-	-	-	CMT	-	MPZ	MPZ	1	1	Johan den Dunnen
00063676	-	PubMed: Bienfait 2002	-	-	-	-	-	-	-	-	-	CMT	-	MPZ	MPZ	1	1	Johan den Dunnen
00063689	-	PubMed: Brozková 2010	-	-	-	-	-	-	-	-	-	CMT	-	MPZ	MPZ	1	1	Johan den Dunnen
00063695	-	PubMed: Miltenberger-Miltenyi 2009	-	-	-	-	-	-	-	-	-	CMT	-	MPZ	MPZ	1	1	Johan den Dunnen
00063698	-	PubMed: Brozková 2010	-	-	-	-	-	-	-	-	-	CMT	-	MPZ	MPZ	1	1	Johan den Dunnen
00063706	-	PubMed: Bienfait 2002	-	-	-	-	-	-	-	-	-	CMT	-	MPZ	MPZ	1	1	Johan den Dunnen
00063707	-	PubMed: Takashima 2001	-	-	-	-	-	-	-	-	-	CMT	-	MPZ	MPZ	1	1	Johan den Dunnen
00063708	-	PubMed: Takashima 2001	-	-	-	-	-	-	-	-	-	CMT	-	MPZ	MPZ	1	1	Johan den Dunnen
00063713	-	PubMed: Takashima 2001	-	-	-	-	-	-	-	-	-	CMT	-	MPZ	MPZ	1	1	Johan den Dunnen
00063724	-	PubMed: Tachi 1996	-	-	-	-	-	-	-	-	-	CMT	-	MPZ	MPZ	1	1	Johan den Dunnen
00063728	-	PubMed: Brozková 2010	-	-	-	-	-	-	-	-	-	CMT	-	MPZ	MPZ	1	1	Johan den Dunnen
00063733	-	PubMed: Gabreels-Festen 1996	-	-	-	-	-	-	-	-	-	CMT	-	MPZ	MPZ	1	1	Johan den Dunnen
00063741	-	PubMed: Street 2002	-	-	-	-	-	-	-	-	-	CMT	-	MPZ	MPZ	1	1	Johan den Dunnen
00063743	-	PubMed: Brozková 2010	-	-	-	-	-	-	-	-	-	CMT	-	MPZ	MPZ	1	1	Johan den Dunnen
00063750	-	PubMed: Brozková 2010	-	-	-	-	-	-	-	-	-	CMT	-	MPZ	MPZ	1	1	Johan den Dunnen
00063755	-	PubMed: Nelis 1996	-	-	-	-	-	-	-	-	-	CMT	-	MPZ	MPZ	1	1	Johan den Dunnen
00063756	-	PubMed: Street 2002	-	-	-	-	-	-	-	-	-	CMT	-	MPZ	MPZ	1	1	Johan den Dunnen
00063764	-	PubMed: Szigeti 2003	-	-	-	-	-	-	-	-	-	CMT	-	MPZ	MPZ	1	1	Johan den Dunnen
00063765	-	PubMed: Miltenberger-Miltenyi 2009	-	-	-	-	-	-	-	-	-	CMT	-	MPZ	MPZ	1	1	Johan den Dunnen
00063766	-	PubMed: Bort 1997	-	-	-	-	-	-	-	-	-	CMT	-	MPZ	MPZ	1	1	Johan den Dunnen
00063771	-	PubMed: Bort 1997	-	-	-	-	-	-	-	-	-	CMT	-	MPZ	MPZ	1	1	Johan den Dunnen
00063772	-	PubMed: Banchs 2010	-	-	-	-	-	-	-	-	-	CMT	-	MPZ	MPZ	1	1	Johan den Dunnen
00063783	-	PubMed: Keckarevic-Markovic 2009	-	-	-	-	-	-	-	-	-	CMT	-	MPZ	MPZ	1	1	Johan den Dunnen
00063786	-	PubMed: Street 2002	-	-	-	-	-	-	-	-	-	CMT	-	MPZ	MPZ	1	1	Johan den Dunnen
00073065	-	-	1 isolated case	-	-	-	-	-	-	-	-	cancer, CMT	, cutis verticis gyrata, disseminated collagenoma	FH	FH	1	1	Jean-Pierre Bayley
00078888	-	-	-	F	-	-	-	-	-	-	-	CMT	-	MFN2	MFN2	2	1	Alessandro Geroldi
00078889	-	-	-	F	-	-	-	-	-	-	-	CMT	-	MFN2	MFN2	2	1	Alessandro Geroldi
00103671	?	PubMed: Di Maria 2004	-	-	-	-	-	-	-	-	-	CMT	Charcot-Marie-Tooth disease, autosomal recessive	GDAP1	GDAP1	1	1	Johan den Dunnen
00103672	?	PubMed: Senderek 2003	-	-	-	-	-	-	-	-	-	CMT	Charcot-Marie-Tooth disease, autosomal recessive	GDAP1	GDAP1	1	1	Johan den Dunnen
00103673	?	PubMed: Ammar 2003	-	-	-	-	-	-	-	-	-	CMT	Charcot-Marie-Tooth disease, autosomal recessive	GDAP1	GDAP1	1	1	Johan den Dunnen
00103676	?	PubMed: Zimon 2011	-	-	-	-	-	-	-	-	-	CMT	Charcot-Marie-Tooth disease, autosomal dominant	GDAP1	GDAP1	1	1	Johan den Dunnen
00103678	?	PubMed: Kabzinska 2005	-	-	-	-	-	-	-	-	-	CMT	Charcot-Marie-Tooth disease, autosomal recessive	GDAP1	GDAP1	1	1	Johan den Dunnen
00103679	?	PubMed: Georgiou 2006	-	-	-	-	-	-	-	-	-	CMT	Charcot-Marie-Tooth disease, autosomal recessive	GDAP1	GDAP1	1	1	Johan den Dunnen
00103682	?	PubMed: Kabzinska 2007	-	-	-	-	-	-	-	-	-	CMT	Charcot-Marie-Tooth disease, autosomal recessive	GDAP1	GDAP1	1	1	Johan den Dunnen
00103683	?	PubMed: Zimon 2011	-	-	-	-	-	-	-	-	-	CMT	Charcot-Marie-Tooth disease, autosomal dominant	GDAP1	GDAP1	1	1	Johan den Dunnen
00103687	?	PubMed: Zhang 2004	-	-	-	-	-	-	-	-	-	CMT	Charcot-Marie-Tooth disease, autosomal recessive	GDAP1	GDAP1	1	1	Johan den Dunnen
00103688	?	PubMed: Stojkovic 2004	-	-	-	-	-	-	-	-	-	CMT	Charcot-Marie-Tooth disease, autosomal recessive	GDAP1	GDAP1	1	1	Johan den Dunnen
00103689	?	PubMed: Barankova 2007	-	-	-	-	-	-	-	-	-	CMT	Charcot-Marie-Tooth disease, autosomal recessive	GDAP1	GDAP1	1	1	Johan den Dunnen
00103692	?	PubMed: Auer-Grumbach 2008	-	-	-	-	-	-	-	-	-	CMT	Charcot-Marie-Tooth disease, autosomal recessive	GDAP1	GDAP1	1	1	Johan den Dunnen
00103694	?	PubMed: Chung 2011	-	-	-	-	-	-	-	-	-	CMT	Charcot-Marie-Tooth disease, autosomal recessive	GDAP1	GDAP1	1	1	Johan den Dunnen
00103698	?	PubMed: Xin 2008	-	-	-	-	-	-	-	-	-	CMT	Charcot-Marie-Tooth disease, autosomal recessive	GDAP1	GDAP1	1	1	Johan den Dunnen
00103699	?	PubMed: Ammar 2003	-	-	-	-	-	-	-	-	-	CMT	Charcot-Marie-Tooth disease, autosomal recessive	GDAP1	GDAP1	1	1	Johan den Dunnen
00103701	?	PubMed: Abe 2011	-	-	-	-	-	-	-	-	-	CMT	Charcot-Marie-Tooth disease, axonal	GDAP1	GDAP1	1	1	Johan den Dunnen
00103702	?	PubMed: Zhang 2004	-	-	-	-	-	-	-	-	-	CMT	Charcot-Marie-Tooth disease, autosomal recessive	GDAP1	GDAP1	1	1	Johan den Dunnen
00103706	?	PubMed: Ammar 2003	-	-	-	-	-	-	-	-	-	CMT	Charcot-Marie-Tooth disease, autosomal recessive	GDAP1	GDAP1	1	1	Johan den Dunnen
00103708	?	PubMed: Zimon 2011	-	-	-	-	-	-	-	-	-	CMT	Charcot-Marie-Tooth disease, autosomal dominant	GDAP1	GDAP1	1	1	Johan den Dunnen
00103711	?	PubMed: Abe 2011	-	-	-	-	-	-	-	-	-	CMT	Charcot-Marie-Tooth disease, axonal	GDAP1	GDAP1	1	1	Johan den Dunnen
00103715	?	PubMed: Azzedine 2003	-	-	-	-	-	-	-	-	-	CMT	Charcot-Marie-Tooth disease, autosomal recessive	GDAP1	GDAP1	1	1	Johan den Dunnen
00103717	?	PubMed: Kabzinska 2011	-	-	-	-	-	-	-	-	-	CMT	Charcot-Marie-Tooth disease 2C	GDAP1	GDAP1	1	1	Johan den Dunnen
00103719	?	PubMed: Chung 2011	-	-	-	-	-	-	-	-	-	CMT	Charcot-Marie-Tooth disease, autosomal recessive	GDAP1	GDAP1	1	1	Johan den Dunnen
00103720	?	PubMed: Ammar 2003	-	-	-	-	-	-	-	-	-	CMT	Charcot-Marie-Tooth disease, autosomal recessive	GDAP1	GDAP1	1	1	Johan den Dunnen
00117852	-	-	-	-	-	-	-	-	-	-	-	CMT	Dominant, axonal, peripheral neuropathy	AARS	AARS	1	1	Heather McLaughlin
00117853	-	-	-	-	-	-	-	-	-	-	-	CMT	Dominant, axonal, peripheral neuropathy	AARS	AARS	1	1	Heather McLaughlin
00117854	-	-	-	-	-	-	-	-	-	-	-	CMT	Dominant, axonal Charcot-Marie-Tooth disease	AARS	AARS	1	1	Heather McLaughlin
00134128	-	PubMed: Bergmann	CMTX, change in GJB1	M	-	Germany	-	-	-	-	-	BMD, CMT	-	DMD	DMD	1	1	Johan den Dunnen
00145074	-	PubMed: Senderek 2003	-	-	-	-	-	-	-	-	-	CMT	-	SH3TC2	SH3TC2	1	1	Johan den Dunnen
00145075	-	PubMed: Azzedine 2006	-	-	-	-	-	-	-	-	-	CMT	-	SH3TC2	SH3TC2	1	1	Johan den Dunnen
00145077	-	PubMed: Lassuthova 2011	-	-	-	-	-	-	-	-	-	CMT	-	SH3TC2	SH3TC2	1	1	Johan den Dunnen
00145078	-	PubMed: Lassuthova 2011	-	-	-	-	-	-	-	-	-	CMT	-	SH3TC2	SH3TC2	1	1	Johan den Dunnen
00145079	-	PubMed: Azzedine 2006	-	-	-	-	-	-	-	-	-	CMT	-	SH3TC2	SH3TC2	1	1	Johan den Dunnen
00145080	-	PubMed: Lassuthova 2011	-	-	-	-	-	-	-	-	-	CMT	-	SH3TC2	SH3TC2	1	1	Johan den Dunnen
00145081	-	PubMed: Senderek 2003	-	-	-	-	-	-	-	-	-	CMT	-	SH3TC2	SH3TC2	1	1	Johan den Dunnen
00145083	-	PubMed: Lupo 2009	-	-	-	-	-	-	-	-	-	CMT	-	SH3TC2	SH3TC2	1	1	Johan den Dunnen
00145084	-	PubMed: Senderek 2003	-	-	-	-	-	-	-	-	-	CMT	-	SH3TC2	SH3TC2	1	1	Johan den Dunnen
00145085	-	PubMed: Senderek 2003	-	-	-	-	-	-	-	-	-	CMT	-	SH3TC2	SH3TC2	1	1	Johan den Dunnen
00145086	-	PubMed: Roberts 2010	-	-	-	-	-	-	-	-	-	CMT	-	SH3TC2	SH3TC2	1	1	Johan den Dunnen
00145087	-	PubMed: Azzedine 2006	-	-	-	-	-	-	-	-	-	CMT	-	SH3TC2	SH3TC2	1	1	Johan den Dunnen
00145088	-	PubMed: Claramunt 2007	-	-	-	-	-	-	-	-	-	CMT	-	SH3TC2	SH3TC2	1	1	Johan den Dunnen
00145089	-	PubMed: Senderek 2003	-	-	-	-	-	-	-	-	-	CMT	-	SH3TC2	SH3TC2	1	1	Johan den Dunnen
00145091	-	PubMed: Azzedine 2006	-	-	-	-	-	-	-	-	-	CMT	-	SH3TC2	SH3TC2	1	1	Johan den Dunnen
00145092	-	PubMed: Azzedine 2006	-	-	-	-	-	-	-	-	-	CMT	-	SH3TC2	SH3TC2	1	1	Johan den Dunnen
00145093	-	PubMed: Senderek 2003	-	-	-	-	-	-	-	-	-	CMT	-	SH3TC2	SH3TC2	1	1	Johan den Dunnen
00145094	-	PubMed: Senderek 2003	-	-	-	-	-	-	-	-	-	CMT	-	SH3TC2	SH3TC2	1	1	Johan den Dunnen
00145095	-	PubMed: Lupo 2009	-	-	-	-	-	-	-	-	-	CMT	-	SH3TC2	SH3TC2	1	1	Johan den Dunnen
00145096	-	PubMed: Gooding 2005	-	-	-	-	-	-	-	-	-	CMT	-	SH3TC2	SH3TC2	1	1	Johan den Dunnen
00145097	-	PubMed: Roberts 2010	-	-	-	-	-	-	-	-	-	CMT	-	SH3TC2	SH3TC2	1	1	Johan den Dunnen
00145098	-	PubMed: Senderek 2003	-	-	-	-	-	-	-	-	-	CMT	-	SH3TC2	SH3TC2	1	1	Johan den Dunnen
00145099	-	PubMed: Senderek 2003	-	-	-	-	-	-	-	-	-	CMT	-	SH3TC2	SH3TC2	1	1	Johan den Dunnen
00145100	-	PubMed: Lassuthova 2011	-	-	-	-	-	-	-	-	-	CMT	-	SH3TC2	SH3TC2	1	1	Johan den Dunnen
00151837	-	PubMed: Chow 2007	-	-	-	-	-	-	-	-	-	CMT	-	FIG4	FIG4	1	1	Johan den Dunnen
00151838	-	PubMed: Nicholson 2011	-	-	-	-	-	-	-	-	-	CMT	-	FIG4	FIG4	1	1	Johan den Dunnen
00151839	-	PubMed: Nicholson 2011	-	-	-	-	-	-	-	-	-	CMT	-	FIG4	FIG4	1	1	Johan den Dunnen
00151842	-	PubMed: Chow 2007	-	-	-	-	-	-	-	-	-	CMT	-	FIG4	FIG4	1	1	Johan den Dunnen
00151844	-	PubMed: Nicholson 2011	-	-	-	-	-	-	-	-	-	CMT	-	FIG4	FIG4	1	1	Johan den Dunnen

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Global Variome shared LOVD