All individuals with variants in gene ACTN3

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.

80 entries on 1 page. Showing entries 1 - 80.

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
00025500	-	PubMed: North 1999	3-generation family, 5 homozygous individuals	-	-	Australia	-	-	-	-	-	alpha-actinin-3 deficiency	2/5 individuals with congenital muscular dystrophy	1	5	Johan den Dunnen
00025501	-	PubMed: North 1999	125 individuals with DNA and muscle biopsy	-	-	Australia	-	-	-	-	-	alpha-actinin-3 deficiency	ACTN3 staining muscle negative	1	48	Johan den Dunnen
00025502	-	PubMed: North 1999	-	-	-	Australia	-	-	-	-	-	?	ACTN3 positive in muscle biopsy	1	53	Johan den Dunnen
00025503	-	PubMed: Suminaga 2000	-	M	-	Japan	-	-	-	-	-	DMD	-	2	87	Johan den Dunnen
00025504	-	PubMed: Suminaga 2000	-	M	-	Japan	-	-	-	-	-	BMD	-	2	32	Johan den Dunnen
00025505	-	PubMed: Suminaga 2000	30 healthy controls	-	-	Japan	-	-	-	-	-	Healthy/Control	-	2	30	Johan den Dunnen
00025506	-	PubMed: Yang 2003	-	-	-	Australia	-	-	-	-	-	Healthy/Control	-	2	436	Johan den Dunnen
00025507	-	PubMed: Yang 2003	-	-	-	Australia	-	-	-	-	-	?	athletes, sprint/power	2	107	Johan den Dunnen
00025508	-	PubMed: Yang 2003	-	-	-	Australia	-	-	-	-	-	?	athletes, endurance	2	194	Johan den Dunnen
00025509	-	PubMed: Niemi 2005	-	-	-	Finland	-	-	-	-	-	Healthy/Control	-	2	120	Johan den Dunnen
00025510	-	PubMed: Niemi 2005	-	-	-	Finland	-	-	-	-	-	?	athletes, sprint	2	68	Johan den Dunnen
00025511	-	PubMed: Niemi 2005	-	-	-	Finland	-	-	-	-	-	?	athletes, endurance	2	40	Johan den Dunnen
00025512	-	PubMed: Moran 2007	-	-	-	Greece	-	-	-	-	-	?	40m sprint time, no association with other performance, body composition or aerobic capacity	2	507	Johan den Dunnen
00119104	#435	PubMed: Luce 2018 PubMed: Luce 2021	-	M	?	Argentina	-	-	-	-	-	DMD	-	1	1	Florencia Giliberto
00141301	#171	-	-	M	-	Argentina	-	-	-	-	-	DMD	-	1	1	Florencia Giliberto
00141315	#430	-	-	M	-	Argentina	-	-	-	-	-	DMD	-	1	1	Florencia Giliberto
00144681	#125	PubMed: Luce 2021	-	M	-	Argentina	-	-	-	-	-	DMD	-	1	1	Florencia Giliberto
00144684	#64LP	PubMed: Luce 2021	-	M	-	Argentina	-	-	-	-	-	DMD	-	1	1	Florencia Giliberto
00266430	#626	PubMed: Luce 2021	-	M	-	Argentina	-	-	-	-	-	DMD	-	1	1	Florencia Giliberto
00266435	#378	PubMed: Luce 2021	-	M	no	Argentina	-	-	-	-	-	DMD	HP:0001252 (lower limbs, onset 6m), HP:0002540	1	1	Florencia Giliberto
00274472	#153	PubMed: Luce 2016, Journal: Luce 2016 PubMed: Luce 2021	-	M	-	Argentina	-	-	-	-	-	BMD/DMD	-	1	1	Florencia Giliberto
00274480	#186	PubMed: Luce 2016, Journal: Luce 2016 PubMed: Luce 2021	-	M	-	Argentina	-	-	-	-	-	BMD/DMD	-	1	1	Florencia Giliberto
00274498	#67	PubMed: Luce 2016, Journal: Luce 2016 PubMed: Luce 2021	-	M	-	Argentina	-	-	-	-	-	BMD/DMD	-	1	1	Florencia Giliberto
00274505	#616	PubMed: Luce 2016, Journal: Luce 2016	-	M	-	Argentina	-	-	-	-	-	BMD/DMD	-	1	1	Florencia Giliberto
00362954	#853	PubMed: Luce 2021	-	M	-	Argentina	-	-	-	-	-	MD	-	1	1	Florencia Giliberto
00362968	#273	PubMed: Luce 2021	-	M	-	Argentina	-	-	-	-	-	MD	-	1	1	Florencia Giliberto
00362976	#294	PubMed: Luce 2021	-	M	-	Argentina	-	-	-	-	-	MD	-	1	1	Florencia Giliberto
00363002	#477	PubMed: Luce 2021	del-dup	M	-	Argentina	-	-	-	-	-	MD	-	1	1	Florencia Giliberto
00363006	#507	PubMed: Luce 2021	-	M	-	Argentina	-	-	-	-	-	MD	-	1	1	Florencia Giliberto
00363046	#676	PubMed: Luce 2021	-	M	-	Argentina	-	-	-	-	-	MD	-	1	1	Florencia Giliberto
00363061	#644	PubMed: Luce 2021	-	M	-	Argentina	-	-	-	-	-	MD	-	1	1	Florencia Giliberto
00363104	#800	PubMed: Luce 2021	-	M	-	Argentina	-	-	-	-	-	MD	-	1	1	Florencia Giliberto
00371664	patients	PubMed: Melo 2015	73 patients	F;M	-	Brazil	-	-	-	-	-	SPOAN	progressive spastic paraplegia in infancy, progressive motor and sensory axonal neuropathy in late childhood/early adolescence leading to severe motor disability; >15y-wheelchair bound, progressive joint contractures, spine deformities; subnormal vision secondary to apparently non-progressive congenital optic atrophy, dysarthria starting third decade of life, exacerbated acoustic startle response; no intellectual disability	1	73	Johan den Dunnen
00462133	#874	PubMed: Luce 2024	-	M	-	Argentina	-	-	-	-	glucocorteroid treatment	BMD/DMD	9y-loss ambulation	1	1	Florencia Giliberto
00462134	#69LP	PubMed: Luce 2024	-	M	-	Argentina	-	-	-	-	glucocorteroid treatment	BMD/DMD	10y-loss ambulation	1	1	Florencia Giliberto
00462135	#832	PubMed: Luce 2024	-	M	-	Argentina	-	-	-	-	-	BMD/DMD	10y-loss ambulation	1	1	Florencia Giliberto
00462136	#52LP	PubMed: Luce 2024	-	M	-	Argentina	-	-	-	-	-	BMD/DMD	11y-loss ambulation	1	1	Florencia Giliberto
00462137	#94	PubMed: Luce 2024	-	M	-	Argentina	-	-	-	-	-	BMD/DMD	8y-loss ambulation	1	1	Florencia Giliberto
00462138	#554	PubMed: Luce 2024	-	M	-	Argentina	-	-	-	-	glucocorteroid treatment	BMD/DMD	8y-loss ambulation	1	1	Florencia Giliberto
00462139	#263	PubMed: Luce 2024	-	M	-	Argentina	-	-	-	-	-	BMD/DMD	8y-loss ambulation; biopsy compatible with DMD	1	1	Florencia Giliberto
00462140	#184LP	PubMed: Luce 2024	-	M	-	Argentina	-	-	-	-	glucocorteroid treatment	BMD/DMD	11y-loss ambulation; biopsy compatible with DMD	1	1	Florencia Giliberto
00462141	#879	PubMed: Luce 2024	-	M	-	Argentina	-	-	-	-	glucocorteroid treatment	BMD/DMD	10y-loss ambulation	1	1	Florencia Giliberto
00462142	#137	PubMed: Luce 2024	-	M	-	Argentina	-	-	-	-	glucocorteroid treatment	BMD/DMD	10y-loss ambulation	1	1	Florencia Giliberto
00462143	#229LP	PubMed: Luce 2024	-	M	-	Argentina	-	-	-	-	-	BMD/DMD	8y-loss ambulation	1	1	Florencia Giliberto
00462144	#658	PubMed: Luce 2024	-	M	-	Argentina	-	-	-	-	glucocorteroid treatment	BMD/DMD	11y-loss ambulation; biopsy compatible with DMD	1	1	Florencia Giliberto
00462145	#864	PubMed: Luce 2024	-	M	-	Argentina	-	-	-	-	-	BMD/DMD	8y-loss ambulation	1	1	Florencia Giliberto
00462146	#15LP	PubMed: Luce 2024	-	M	-	Argentina	-	-	-	-	-	BMD/DMD	11y-loss ambulation	1	1	Florencia Giliberto
00462147	#915	PubMed: Luce 2024	-	M	-	Argentina	-	-	-	-	glucocorteroid treatment	BMD/DMD	10y-loss ambulation; biopsy compatible with DMD	1	1	Florencia Giliberto
00462148	#431	PubMed: Luce 2024	-	M	-	Argentina	-	-	-	-	-	BMD/DMD	9y-loss ambulation	1	1	Florencia Giliberto
00462149	#467	PubMed: Luce 2024	-	M	-	Argentina	-	-	-	-	-	BMD/DMD	6y-loss ambulation; biopsy compatible with DMD	1	1	Florencia Giliberto
00462150	#195LP	PubMed: Luce 2024	-	M	-	Argentina	-	-	-	-	-	BMD/DMD	10y-loss ambulation; biopsy compatible with DMD	1	1	Florencia Giliberto
00462151	#564	PubMed: Luce 2024	-	M	-	Argentina	-	-	-	-	-	BMD/DMD	6y-loss ambulation; biopsy compatible with DMD	1	1	Florencia Giliberto
00462152	#47LP	PubMed: Luce 2024	-	M	-	Argentina	-	-	-	-	-	BMD/DMD	6y-loss ambulation; biopsy compatible with DMD	1	1	Florencia Giliberto
00462153	#169LP	PubMed: Luce 2024	-	M	-	Argentina	-	-	-	-	glucocorteroid treatment	BMD/DMD	8y-loss ambulation	1	1	Florencia Giliberto
00462154	#238LP	PubMed: Luce 2024	-	M	-	Argentina	-	-	-	-	glucocorteroid treatment	BMD/DMD	10y-loss ambulation	1	1	Florencia Giliberto
00462155	#68LP	PubMed: Luce 2024	-	M	-	Argentina	-	-	-	-	glucocorteroid treatment	BMD/DMD	11y-loss ambulation	1	1	Florencia Giliberto
00462156	#677	PubMed: Luce 2024	-	M	-	Argentina	-	-	-	-	-	BMD/DMD	7y-loss ambulation	1	1	Florencia Giliberto
00462157	#747	PubMed: Luce 2024	-	M	-	Argentina	-	-	-	-	glucocorteroid treatment	BMD/DMD	10y-loss ambulation; biopsy compatible with DMD	1	1	Florencia Giliberto
00462158	#432	PubMed: Luce 2024	-	M	-	Argentina	-	-	-	-	glucocorteroid treatment	BMD/DMD	23y-loss ambulation; biopsy compatible with DMD	1	1	Florencia Giliberto
00462159	#34LP	PubMed: Luce 2024	-	M	-	Argentina	-	-	-	-	glucocorteroid treatment	BMD/DMD	17y-loss ambulation; biopsy compatible with DMD	1	1	Florencia Giliberto
00462160	#545	PubMed: Luce 2024	-	M	-	Argentina	-	-	-	-	glucocorteroid treatment	BMD/DMD	19y-loss ambulation; biopsy compatible with DMD	1	1	Florencia Giliberto
00462161	#66LP	PubMed: Luce 2024	-	M	-	Argentina	-	-	-	-	glucocorteroid treatment	BMD/DMD	17y-loss ambulation; biopsy compatible with DMD	1	1	Florencia Giliberto
00462162	#516	PubMed: Luce 2024	-	M	-	Argentina	-	-	-	-	glucocorteroid treatment	BMD/DMD	21y-loss ambulation; biopsy compatible with DMD	1	1	Florencia Giliberto
00462163	#823	PubMed: Luce 2024	-	M	-	Argentina	-	-	-	-	glucocorteroid treatment	BMD/DMD	16y-loss ambulation; biopsy compatible with DMD	1	1	Florencia Giliberto
00462164	#72LP	PubMed: Luce 2024	-	M	-	Argentina	-	-	-	-	glucocorteroid treatment	BMD/DMD	17y-loss ambulation	1	1	Florencia Giliberto
00462165	#212LP	PubMed: Luce 2024	-	M	-	Argentina	-	-	-	-	-	BMD/DMD	19y-loss ambulation; biopsy compatible with DMD	1	1	Florencia Giliberto
00462166	#81LP	PubMed: Luce 2024	-	M	-	Argentina	-	-	-	-	glucocorteroid treatment	BMD/DMD	20y-loss ambulation; biopsy compatible with DMD	1	1	Florencia Giliberto
00462167	#182LP	PubMed: Luce 2024	-	M	-	Argentina	-	-	-	-	-	BMD/DMD	21y-loss ambulation; biopsy compatible with DMD	1	1	Florencia Giliberto
00462168	#912	PubMed: Luce 2024	-	M	-	Argentina	-	-	-	-	glucocorteroid treatment	BMD/DMD	16y-loss ambulation; biopsy compatible with DMD	1	1	Florencia Giliberto
00462169	#888	PubMed: Luce 2024	-	M	-	Argentina	-	-	-	-	glucocorteroid treatment	BMD/DMD	16y-loss ambulation; biopsy compatible with DMD	1	1	Florencia Giliberto
00462170	#39LP	PubMed: Luce 2024	-	M	-	Argentina	-	-	-	-	glucocorteroid treatment	BMD/DMD	21y-loss ambulation; biopsy compatible with DMD	1	1	Florencia Giliberto
00462171	#228	PubMed: Luce 2024	-	M	-	Argentina	-	-	-	-	glucocorteroid treatment	BMD/DMD	20y-loss ambulation; biopsy compatible with DMD	1	1	Florencia Giliberto
00462172	#132	PubMed: Luce 2024	-	M	-	Argentina	-	-	-	-	-	BMD/DMD	15y-loss ambulation; biopsy compatible with DMD	1	1	Florencia Giliberto
00462173	#420	PubMed: Luce 2024	-	M	-	Argentina	-	-	-	-	glucocorteroid treatment	BMD/DMD	16y-loss ambulation; biopsy compatible with DMD	1	1	Florencia Giliberto
00462174	#283	PubMed: Luce 2024	-	M	-	Argentina	-	-	-	-	glucocorteroid treatment	BMD/DMD	19y-loss ambulation; biopsy compatible with DMD	1	1	Florencia Giliberto
00462175	#184	PubMed: Luce 2024	-	M	-	Argentina	-	-	-	-	-	BMD/DMD	18y-loss ambulation	1	1	Florencia Giliberto
00462176	#48LP	PubMed: Luce 2024	-	M	-	Argentina	-	-	-	-	glucocorteroid treatment	BMD/DMD	20y-loss ambulation; biopsy compatible with DMD	1	1	Florencia Giliberto
00462177	#584	PubMed: Luce 2024	-	M	-	Argentina	-	-	-	-	glucocorteroid treatment	BMD/DMD	21y-loss ambulation; biopsy compatible with DMD	1	1	Florencia Giliberto
00462178	#523	PubMed: Luce 2024	-	M	-	Argentina	-	-	-	-	glucocorteroid treatment	BMD/DMD	18y-loss ambulation; biopsy compatible with DMD	1	1	Florencia Giliberto
00462179	#13LP	PubMed: Luce 2024	-	M	-	Argentina	-	-	-	-	glucocorteroid treatment	BMD/DMD	17y-loss ambulation; biopsy compatible with DMD	1	1	Florencia Giliberto

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Global Variome shared LOVD

ACTN3 (actinin, alpha 3 (gene/pseudogene))