All individuals with variants in gene TMEM43

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.

71 entries on 1 page. Showing entries 1 - 71.

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
00058466	-	PubMed: van Spaendonck-Zwarts 2014	4-generation family, 2 affecteds	M	-	Netherlands	-	-	-	-	-	CMD	mild DCM, 1 case peripartum cardiomyopathy	1	2	Johan den Dunnen
00064074	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064098	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064163	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00128449	212	PubMed: Sahlin 2019, Journal: Sahlin 2019	stillbirth cohort (290 cases from Sweden)	M	-	Sweden	-	-	-	-	-	?	-	1	1	Ellika Sahlin
00128453	226	PubMed: Sahlin 2019, Journal: Sahlin 2019	stillbirth cohort (290 cases from Sweden)	F	-	Sweden	-	-	-	-	-	?	-	1	1	Ellika Sahlin
00208764	-	-	-	M	-	Germany	-	-	-	-	-	-	HP:0003198 (Myopathy)	1	1	Andreas Laner
00209945	-	-	-	-	-	-	-	-	-	-	-	?	?	1	1	Paul van der Zwaag
00209946	-	-	-	-	-	-	-	-	-	-	-	?	?	1	1	Paul van der Zwaag
00209947	-	PubMed: Merner	Modified TFC (Hamid et al. JACC 2002); 15 families from Newfoundland, Canada	-	-	-	-	-	-	-	-	ARVD/C	ARVD/C, Task Force Criteria positive	1	114	Paul van der Zwaag
00209948	-	-	-	-	-	-	-	-	-	-	-	?	?	1	1	Paul van der Zwaag
00209949	-	-	-	-	-	-	-	-	-	-	-	?	?	1	1	Paul van der Zwaag
00209950	-	-	Found once in 150 patients	-	-	-	-	-	-	-	-	?	?	1	1	Paul van der Zwaag
00209951	-	-	-	-	-	-	-	-	-	-	-	?	?	1	1	Paul van der Zwaag
00209952	-	-	-	-	-	-	-	-	-	-	-	?	?	1	1	Paul van der Zwaag
00209953	-	-	-	-	-	-	-	-	-	-	-	?	?	1	1	Paul van der Zwaag
00209954	-	-	-	-	-	-	-	-	-	-	-	?	?	1	1	Paul van der Zwaag
00209955	-	-	-	-	-	-	-	-	-	-	-	?	?	1	1	Paul van der Zwaag
00209956	-	-	-	-	-	-	-	-	-	-	-	?	?	1	1	Paul van der Zwaag
00209957	-	-	-	-	-	-	-	-	-	-	-	?	?	1	1	Paul van der Zwaag
00209958	-	-	-	-	-	-	-	-	-	-	-	?	?	1	1	Paul van der Zwaag
00209959	-	-	-	-	-	-	-	-	-	-	-	?	?	1	1	Paul van der Zwaag
00209960	-	-	-	-	-	-	-	-	-	-	-	?	?	1	1	Paul van der Zwaag
00209961	-	-	-	-	-	-	-	-	-	-	-	?	?	1	1	Paul van der Zwaag
00209962	-	-	-	-	-	-	-	-	-	-	-	?	?	1	1	Paul van der Zwaag
00209963	-	-	-	-	-	-	-	-	-	-	-	?	?	1	1	Paul van der Zwaag
00209964	-	-	-	-	-	-	-	-	-	-	-	?	?	1	1	Paul van der Zwaag
00209965	-	-	-	-	-	-	-	-	-	-	-	?	?	1	1	Paul van der Zwaag
00209966	-	-	-	-	-	-	-	-	-	-	-	?	?	1	1	Paul van der Zwaag
00209967	-	-	-	-	-	-	-	-	-	-	-	?	?	1	1	Paul van der Zwaag
00209968	-	-	-	-	-	-	-	-	-	-	-	?	?	1	1	Paul van der Zwaag
00209969	-	-	-	-	-	-	-	-	-	-	-	?	?	1	1	Paul van der Zwaag
00209970	-	-	-	-	-	-	-	-	-	-	-	?	?	1	1	Paul van der Zwaag
00209971	-	-	-	-	-	-	-	-	-	-	-	?	?	1	1	Paul van der Zwaag
00209972	-	-	-	-	-	-	-	-	-	-	-	?	?	1	1	Paul van der Zwaag
00209973	-	-	-	-	-	-	-	-	-	-	-	?	?	1	1	Paul van der Zwaag
00209974	-	-	-	-	-	-	-	-	-	-	-	?	?	1	1	Paul van der Zwaag
00209975	-	-	-	-	-	-	-	-	-	-	-	?	?	1	1	Paul van der Zwaag
00209976	-	-	-	-	-	-	-	-	-	-	-	?	?	1	1	Paul van der Zwaag
00209977	-	-	-	-	-	-	-	-	-	-	-	?	?	1	1	Paul van der Zwaag
00209978	-	-	-	-	-	-	-	-	-	-	-	?	?	1	1	Paul van der Zwaag
00209979	-	-	-	-	-	-	-	-	-	-	-	?	?	1	1	Paul van der Zwaag
00209980	-	-	-	-	-	-	-	-	-	-	-	?	?	1	1	Paul van der Zwaag
00209981	-	-	-	-	-	-	-	-	-	-	-	?	?	1	1	Paul van der Zwaag
00209982	-	-	-	-	-	-	-	-	-	-	-	?	?	1	1	Paul van der Zwaag
00209983	-	-	-	-	-	-	-	-	-	-	-	?	?	1	1	Paul van der Zwaag
00209984	-	-	-	-	-	-	-	-	-	-	-	?	?	1	1	Paul van der Zwaag
00209985	-	-	-	-	-	-	-	-	-	-	-	?	?	1	1	Paul van der Zwaag
00209986	-	-	-	-	-	-	-	-	-	-	-	?	?	1	1	Paul van der Zwaag
00293226	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	12	Mohammed Faruq
00293227	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	3	Mohammed Faruq
00293228	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	5	Mohammed Faruq
00293229	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00293230	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	7	Mohammed Faruq
00293231	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00293232	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00293233	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00295306	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	34	Mohammed Faruq
00295584	-	-	-	M	-	-	-	-	-	-	-	?	Abnormality of movement (HP:0100022); Abnormality of the curvature of the vertebral column (HP:0010674); Abnormality of monovalent inorganic cation homeostasis (HP:0010930); Abnormality of the renal pelvis (HP:0010944); Abnormal renal physiology (HP:0012211); Abnormal eye physiology (HP:0012373); Intellectual disability (HP:0001249); Hydronephrosis (HP:0000126); Abnormality of nervous system physiology (HP:0012638); Sleep disturbance (HP:0002360); Scoliosis (HP:0002650); Hyponatremia (HP:0002902); Abnormality of the middle ear (HP:0000370); Conductive hearing impairment (HP:0000405); Amblyopia (HP:0000646); Abnormality of the ureter (HP:0000069); Sleep-wake cycle disturbance (HP:0006979); Vesicoureteral reflux (HP:0000076); Renal insufficiency (HP:0000083); Congenital megaureter (HP:0008676)	1	1	Andreas Laner
00305397	159405	-	-	F	?	Germany	-	-	-	-	-	seizures	hereditary epilepsy, positive family history (uncle and cousin)	1	1	Andreas Laner
00305399	130504	-	-	M	?	Germany	-	-	-	-	-	PWS	Makrosomie, Adipositas	1	1	Andreas Laner
00305400	137849	-	-	F	?	-	-	-	-	-	-	CCHS	Central hypoventilation syndrome, cryptogenic epilepsy, combined developmental delay, chronic epilepsy hypoxaemia (drumstick finger); behavioural abnormalities, resuscitation, tracheotomized and nocturnal home respiration	1	1	Andreas Laner
00305401	148083	-	-	M	?	Turkey	-	-	-	-	-	Healthy/Control	healthy pregnant individual; prenatal ultrasound abnormality in fetus	1	1	Andreas Laner
00305402	155722	-	-	M	?	Germany	-	-	-	-	-	NLSDM	cerebrotendinous xanthomatosis in juvenile cataract and activity and attention deficit disorder	1	1	Andreas Laner
00316899	-	PubMed: Walsh 2017	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CM	-	1	1	Johan den Dunnen
00317897	-	PubMed: Walsh 2017	-	-	-	United States	-	-	-	-	-	CM	-	1	1	Johan den Dunnen
00317898	-	PubMed: Walsh 2017	-	-	-	United States	-	-	-	-	-	CM	-	1	1	Johan den Dunnen
00374892	S-3945	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00391963	MDCRC/0810/DBI-721	PubMed: Karthikeyan 2024	-	M	yes	India	-	-	-	yes	-	DMD	delayed fine motor development (HP:0010862), calf muscle hypertrophy (HP:0008981), frequent falls (HP:0002359); scoliosis; 11y-loss ambulation; too lean	1	1	Lakshmi Bremadesam
00453126	Fam42Pat78	Fusco 2042, submitted	-	M	-	Italy	white	-	-	-	-	CM	-	1	1	Carmela Fusco
00453144	Fam287Pat307	Fusco 2042, submitted	-	M	-	Italy	white	-	-	-	-	CM	-	1	1	Carmela Fusco

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How to query

Global Variome shared LOVD

TMEM43 (transmembrane protein 43)