All individuals with variants in gene DNM2

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.

94 entries on 1 page. Showing entries 1 - 94.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00035625	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035626	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035627	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035628	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035629	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035630	-	-	-	-	-	Germany	-	-	-	-	-	?	PNP	1	1	Andreas Laner
00035631	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected hereditary sensomotoric PNP, intermittend dysaesthesia	1	1	Andreas Laner
00035632	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035633	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035634	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00054673	-	PubMed: O'Grady 2016	-	M	-	Australia	-	>22y	-	-	-	MDC	infantile hypotonia, eventration of diaphragm, gross motor delay, mild facial weakness, ptosis, ophthalmoplegia, contractures, gastrostomy fed; CPK normal; IHC alphaDG; histology dystrophic	1	1	Sandra Cooper
00054675	Pat66	PubMed: O'Grady 2016	-	F	-	Australia	-	>12y	-	-	-	MDC	infantile onset, gross motor delay, proximal weakness, facial weakness, ptosis, ophthalmoplegia, contractures; CPK normal; IHC alphaDG; histology non-specific	1	1	Sandra Cooper
00056343	-	-	4-generation family, 8 affecteds	-	-	France	-	-	-	-	-	CNM1	-	1	8	Johan den Dunnen
00056344	-	-	-	-	-	France	-	-	-	-	-	CNM1	-	1	1	Johan den Dunnen
00056345	-	-	-	-	-	France	-	-	-	-	-	CNM1	-	1	1	Johan den Dunnen
00056346	-	-	3-generation family, 6 affecteds	-	-	France	-	-	-	-	-	CNM1	-	1	6	Johan den Dunnen
00056347	-	-	-	-	-	Belgium	-	-	-	-	-	CNM1	-	1	1	Johan den Dunnen
00056348	-	-	-	-	-	Belgium	-	-	-	-	-	CNM1	-	1	1	Johan den Dunnen
00056349	-	-	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CNM1	-	1	1	Johan den Dunnen
00056350	-	-	-	-	-	United States	-	-	-	-	-	CNM1	-	1	1	Johan den Dunnen
00056351	-	-	-	-	-	Germany	-	-	-	-	-	CNM1	-	1	1	Johan den Dunnen
00056352	-	-	4-generation family, 4 affecteds	-	-	Italy	-	-	-	-	-	CMT2	axonal CMT	1	4	Johan den Dunnen
00056353	-	-	-	F	-	Brazil	-	>36y	-	-	-	CNM1	early onset; neonatal hypotonia, stable muscle involvement, ophthalmoparesis	1	1	Johan den Dunnen
00056354	-	-	4-generation family, 3 affecteds	-	-	Italy	-	-	-	-	-	CMT2	axonal CMT	1	3	Johan den Dunnen
00056355	-	PubMed: Echaniz-Laguna 2007	2-generation family, 5 affecteds (mother, 3 daugthers, son)	-	-	France	-	-	-	-	-	CNM1	mild cognitive impairment, mild axonal peripheral nerve involvement	1	5	Johan den Dunnen
00056356	-	PubMed: Bitoun 2007	-	-	-	Argentina	-	-	-	-	-	CNM1	neonatal hypotonia, weak suckling	1	1	Johan den Dunnen
00056357	-	PubMed: Bitoun 2007	-	-	-	Argentina	-	-	-	-	-	CNM1	neonatal hypotonia, weak suckling	1	1	Johan den Dunnen
00056358	-	PubMed: Bitoun 2007	-	-	-	Argentina	-	-	-	-	-	CNM1	neonatal hypotonia, weak suckling	1	1	Johan den Dunnen
00056359	-	PubMed: Bitoun 2007	-	-	-	France	-	-	-	-	-	CNM1	neonatal hypotonia, weak suckling	1	1	Johan den Dunnen
00056360	-	PubMed: Bitoun 2007	-	-	-	France	-	-	-	-	-	CNM1	neonatal hypotonia, weak suckling	1	1	Johan den Dunnen
00056361	-	PubMed: Claeys 2009	2-generation family, 3 affecteds	-	-	Spain	-	-	-	-	-	CMT2	-	1	3	Johan den Dunnen
00056362	-	PubMed: Claeys 2009	5-generation family, 22 affecteds	-	-	Australia	-	-	-	-	-	CMT2	neutropenia	1	22	Johan den Dunnen
00056363	-	PubMed: Claeys 2009	4-generation family, 8 affecteds, 1 asymptomatic carrier	-	-	Belgium	-	-	-	-	-	CMT2	neutropenia	1	9	Johan den Dunnen
00056364	-	-	-	-	-	-	-	-	-	-	-	CMT2	congenital cataracts, ophthalmoparesis, ptosis, neutropenia	1	1	Johan den Dunnen
00056365	-	-	3-generation family, 3 affecteds, 3 asymptomatic carriers	-	-	Belgium	-	-	-	-	-	CMT2	-	1	6	Johan den Dunnen
00056366	-	-	6-generation family, 21 affecteds	-	-	United States	-	-	-	-	-	CMT2	-	1	21	Johan den Dunnen
00056367	-	PubMed: Claeys 2009	3-generation family, 5 affecteds	-	-	Netherlands	-	-	-	-	-	CMT2	-	1	5	Johan den Dunnen
00056368	-	-	-	M	-	United States	-	-	-	-	-	CNM1	-	1	1	Tom Winder
00056369	-	-	-	M	-	United States	-	-	-	-	-	CNM1	-	1	1	Tom Winder
00056370	-	-	-	M	-	United States	-	-	-	-	-	CNM1	-	1	1	Tom Winder
00056371	-	-	-	M	-	United States	-	-	-	-	-	CNM1	-	1	1	Tom Winder
00056372	-	-	-	M	-	United States	-	-	-	-	-	CNM1	-	1	1	Tom Winder
00056373	-	-	-	F	-	Sweden	-	-	-	-	-	MYOP	mild, adult onset	1	1	Olivera Casar-Borota
00056374	-	PubMed: Bitoun 2009	-	F	-	-	African, central	-	-	-	-	CNM1	intermediate, onset end first decade, more rapid progression	1	1	Johan den Dunnen
00056375	-	-	large family	-	-	Chile	-	-	-	-	-	CNM1	moderate, progressive	1	1	Johan den Dunnen
00056376	-	PubMed: Melberg 2010	affected mother and daugther	F	-	-	Sweden	-	-	-	-	MPD1	centronuclear myopathy, neonatal-onset	1	2	Johan den Dunnen
00056377	-	-	-	-	-	-	-	-	-	-	-	MPD1	centronuclear myopathy with cataracts	1	1	Johan den Dunnen
00056378	-	-	3-generation family, 14 affecteds	-	-	Guiana, French	-	-	-	-	-	CNM1	milder, diffuse muscle hypertrophy	1	14	Johan den Dunnen
00056379	-	-	-	-	-	France	-	-	-	-	-	CNM1	-	1	1	Johan den Dunnen
00274395	Pat8	PubMed: Park 2017	-	M	-	Korea	-	-	-	-	-	MD	weakness and contractures of ankle dorsiflexors ; muscle myopathic pattern with extensive central nuclei; elevated CK (434 IU/L); no family history	1	1	Johan den Dunnen
00288982	Pat36	PubMed: Punetha 2016	analysis 94 myopathy cases	-	-	-	-	-	-	-	-	MDC	-	1	1	Johan den Dunnen
00288999	Pat53	PubMed: Punetha 2016	analysis 94 myopathy cases	-	-	-	-	-	-	-	-	MYOP	-	1	1	Johan den Dunnen
00289000	Pat54	PubMed: Punetha 2016	analysis 94 myopathy cases	-	-	-	-	-	-	-	-	MYOP	-	1	1	Johan den Dunnen
00292021	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00292022	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00292023	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00292024	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00299986	-	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMT2	-	1	1	Johan den Dunnen
00300035	-	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	HMN	-	1	1	Johan den Dunnen
00301658	-	-	-	M	-	Germany	-	-	-	-	-	?	Pes cavus (HP:0001761); Toe walking (HP:0040083); Abnormal nerve conduction velocity (HP:0040129)	1	1	Andreas Laner
00307120	-	-	-	M	no	France	-	-	-	-	-	CNM1	-	1	2	Mathieu Cerino
00314233	-	PubMed: Topf 2020	analysis 1001 patients with unexplained limb-girdle weakness	-	-	-	-	-	-	-	-	LGMD	-	1	1	Johan den Dunnen
00314234	-	PubMed: Topf 2020	analysis 1001 patients with unexplained limb-girdle weakness	-	-	-	-	-	-	-	-	LGMD	-	1	1	Johan den Dunnen
00314235	-	PubMed: Topf 2020	analysis 1001 patients with unexplained limb-girdle weakness	-	-	-	-	-	-	-	-	LGMD	-	1	1	Johan den Dunnen
00314236	-	PubMed: Topf 2020	analysis 1001 patients with unexplained limb-girdle weakness	-	-	-	-	-	-	-	-	LGMD	-	1	1	Johan den Dunnen
00377065	-	-	-	M	no	Japan	-	-	-	-	-	CNM1	-	1	1	Mariko Okubo
00377069	-	-	-	F	no	Japan	-	-	-	-	-	CNM1	-	1	1	Mariko Okubo
00377070	-	-	-	M	no	Japan	-	-	-	-	-	CNM1	-	1	1	Mariko Okubo
00377071	-	-	-	M	no	Japan	-	-	-	-	-	CNM1	-	1	1	Mariko Okubo
00377072	-	-	-	F	no	Japan	-	-	-	-	-	CNM1	-	1	1	Mariko Okubo
00377073	-	-	-	F	no	Japan	-	-	-	-	-	CNM1	-	1	1	Mariko Okubo
00377074	-	-	-	F	no	Japan	-	-	-	-	-	CNM1	-	1	1	Mariko Okubo
00377075	-	-	-	M	no	Japan	-	-	-	-	-	CNM1	-	1	1	Mariko Okubo
00377076	-	-	-	F	no	Japan	-	-	-	-	-	CNM1	-	1	1	Mariko Okubo
00377077	-	-	-	F	no	Japan	-	-	-	-	-	CNM1	-	1	1	Mariko Okubo
00377078	-	-	-	M	no	Japan	-	-	-	-	-	CNM1	-	1	1	Mariko Okubo
00377079	-	-	-	F	no	Japan	-	-	-	-	-	CNM1	-	1	1	Mariko Okubo
00377080	-	-	-	F	no	Japan	-	-	-	-	-	CNM1	-	1	1	Mariko Okubo
00377081	-	-	-	F	no	Japan	-	-	-	-	-	CNM1	-	1	1	Mariko Okubo
00377082	-	-	-	M	no	Japan	-	-	-	-	-	CNM1	-	1	1	Mariko Okubo
00377083	-	-	-	F	no	Japan	-	-	-	-	-	CNM1	-	1	1	Mariko Okubo
00377086	-	-	-	F	no	Japan	-	-	-	-	-	CNM1	-	1	1	Mariko Okubo
00398775	856	PubMed: Ferese 2021	2-generation family, 1 affected, family members unavailable for testing	M	-	Italy	-	>67y	-	-	-	CMTDIB;CMT2M	Peripheral neuropathy (HP:0009830), Decreased nerve conduction velocity (HP:0000762)	1	1	Yvet den Hartog
00398948	Fam45Pat51	PubMed: Natera-de Benito 2021	patient	M	-	Spain	-	-	-	-	-	MYOP	hypotonia, cervical weakness; 1y2m-walk, run; ptosis; ophthalmoplegia; facial weakness; flexor weakness; proximal weaksness, distal weakness; scoliosis (no surgery); 8y-no cardiac involvement; intellectual disability	1	1	Johan den Dunnen
00398949	Fam46Pat52	PubMed: Natera-de Benito 2021	patient	M	-	Spain	-	-	-	-	-	MYOP	ptosis; 1y2m-walk, run; ptosis; no ophthalmoplegia; facial weakness; no flexor weakness; proximal weaksness, distal weakness; 2y-no cardiac involvement	1	1	Johan den Dunnen
00398950	Fam47Pat53	PubMed: Natera-de Benito 2021	patient	M	-	Spain	-	-	-	-	-	MYOP	hypotonia, weakness; 2y-walk; ptosis; ophthalmoplegia; facial weakness; flexor weakness; proximal weaksness, distal weakness; 8y-nocturnal noninvasive ventilation; scoliosis (no surgery); 14y-no cardiac involvement	1	1	Johan den Dunnen
00399029	P72	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	serum CK normal; muscle biopsy internal nuclei	1	1	Johan den Dunnen
00399042	P99	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	serum CK normal; muscle biopsy internal nuclei	1	1	Johan den Dunnen
00399059	P125	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	serum CK 78 U/L; muscle biopsy myopathic changes; hypotonia, muscle weakness	1	1	Johan den Dunnen
00408687	Pat64	PubMed: Thomas 2022	no family history	-	no	France	-	-	-	-	-	NMD	-	1	1	Johan den Dunnen
00419483	9116	PubMed: Marinakis 2021	-	F	-	Greece	-	-	-	-	-	?	central core hypotonia, growth retardation, respiratory deficiency	1	1	Jan Traeger-Synodinos
00438672	HSJ0623	PubMed: Hamdan 2017	WGS analysis 197 individuals with unexplained DEE (unaffected parents)	-	-	Canada	-	-	-	-	pharmaco-resistant seizures	DEE	see paper; ..., global developmental delay, moderate intellectual disability, autism spectrum disorder; 10m-seizures; EEG diffuse slowing, bi-frontal predominance or generalized spikes; MRI brain normal; ADHD, tremor, seizures controlled under VPA and CLB	1	1	Johan den Dunnen
00447878	-	-	-	-	-	-	-	-	-	-	-	CMT	-	1	1	Gemeinschaftspraxis für Humangenetik Dresden
00448516	-	-	-	F	no	Chile	Hispanic	-	-	-	-	CNM	Ptosis, facial and generalized weakness. Symptoms of respiratory impairment. Muscle biopsy shows typical AD-CNM features: central nuclei, type 1 fibre predominance, interyofibrillar network radiated strands with NADH-TR	1	1	JA Bevilacqua

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Global Variome shared LOVD

DNM2 (dynamin 2)