Disease #01462 (CMYO2A;NEM3 (myopathy, congenital, type 2A, typical), OMIM:161800)

Official abbreviation	CMYO2A;NEM3
Name	myopathy, congenital, type 2A, typical
OMIM ID	161800
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	201
Phenotype entries for this disease	200
Associated with 1 gene	ACTA1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2024-09-05 18:57:10 +02:00 (CEST)

Individuals

Legend

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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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^	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'
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!=""	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
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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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201 entries on 3 pages. Showing entries 1 - 100.

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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
00106168	-	PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004	-	-	-	(United States)	-	-	-	-	-	CMYO2A;NEM3	severe	ACTA1	ACTA1	1	1	Alan Beggs
00106169	-	PubMed: Laing et al, 2009	-	-	-	(Germany)	-	-	-	-	-	CMYO2A;NEM3	-	ACTA1	ACTA1	1	1	Kristen Nowak
00106170	-	PubMed: Laing et al, 2009	-	-	-	(Belgium)	-	-	-	-	-	CMYO2A;NEM3	typical	ACTA1	ACTA1	1	1	Kristen Nowak
00106171	-	PubMed: Laing et al, 2009	-	-	-	(Finland)	-	-	-	-	-	CMYO2A;NEM3	-	ACTA1	ACTA1	1	1	Kristen Nowak
00106175	-	PubMed: Sparrow et al, 2003	-	-	-	(France)	-	-	-	-	-	CMYO2A;NEM3	-	ACTA1	ACTA1	1	1	Kristen Nowak
00106176	-	PubMed: Laing et al, 2009	-	-	-	(Japan)	-	-	-	-	-	CMYO2A;NEM3	-	ACTA1	ACTA1	1	1	Kristen Nowak
00106177	-	PubMed: Laing et al, 2009	-	-	-	(Japan)	-	-	-	-	-	CMYO2A;NEM3	-	ACTA1	ACTA1	1	1	Kristen Nowak
00106178	-	PubMed: Laing et al, 2009	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	CMYO2A;NEM3	-	ACTA1	ACTA1	1	1	Kristen Nowak
00106179	-	PubMed: Laing et al, 2009	-	-	-	(Netherlands)	-	-	-	-	-	CMYO2A;NEM3	-	ACTA1	ACTA1	1	1	Kristen Nowak
00106180	-	PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004	-	-	-	(United States)	-	-	-	-	-	CMYO2A;NEM3	severe	ACTA1	ACTA1	1	1	Alan Beggs
00106181	-	PubMed: Laing et al, 2009	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	CMYO2A;NEM3	somatic mosaicism mother	ACTA1	ACTA1	1	1	Kristen Nowak
00106182	-	PubMed: Nowak et al, 2007, PubMed: Sparrow et al, 2003	-	-	-	(France)	-	-	-	-	-	CMYO2A;NEM3	severe; required mechanical ventilation from birth, possibly affected cousin	ACTA1	ACTA1	1	1	Kristen Nowak
00106183	-	PubMed: Nowak et al, 1999, PubMed: Sparrow et al, 2003	-	-	-	(United States)	-	-	-	-	-	CMYO2A;NEM3	intranuclear rods	ACTA1	ACTA1	1	1	Alan Beggs
00106184	-	PubMed: Sparrow et al, 2003	-	-	-	(Finland)	-	-	-	-	-	CMYO2A;NEM3	one intranuclear rod	ACTA1	ACTA1	1	1	Kristen Nowak
00106185	-	PubMed: Wallgren-Pettersson et al, 2001, PubMed: Sparrow et al, 2003, PubMed: Graziano et al, 2004	monozygotic twins	-	-	(Italy)	-	-	-	-	-	CMYO2A;NEM3	typical	ACTA1	ACTA1	1	1	Kristen Nowak
00106186	-	PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004	parents not tested	-	-	(United States)	-	-	-	-	-	CMYO2A;NEM3	typical, age onset 21y/54y	ACTA1	ACTA1	1	2	Alan Beggs
00106187	-	PubMed: Sparrow et al, 2003	-	-	-	(Belgium)	-	-	-	-	-	CMYO2A;NEM3	mild	ACTA1	ACTA1	1	1	Kristen Nowak
00106188	-	PubMed: Sparrow et al, 2003	-	-	-	(Denmark)	-	-	-	-	-	CMYO2A;NEM3	-	ACTA1	ACTA1	1	1	Kristen Nowak
00106189	-	PubMed: Laing et al, 2009	-	-	-	(France)	-	-	-	-	-	CMYO2A;NEM3	severe/intermediate ; Disease severity in email from Norma 2.2.04.	ACTA1	ACTA1	1	1	Kristen Nowak
00106191	-	PubMed: Laing et al, 2009	-	-	-	(Finland)	-	-	-	-	-	CMYO2A;NEM3	typical, intranuclear rods	ACTA1	ACTA1	1	1	Kristen Nowak
00106192	-	PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004	-	-	-	(United States)	-	-	-	-	-	CMYO2A;NEM3	typical, age onset 7y/48y	ACTA1	ACTA1	1	2	Alan Beggs
00106193	-	PubMed: Ilkovski et al, 2004	-	-	-	(Australia)	-	-	-	-	-	CMYO2A;NEM3	severe myopathy, nemaline, type 3 (NEM-3);AM	ACTA1	ACTA1	1	1	Kristen Nowak
00106194	-	PubMed: Laing et al, 2009	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	CMYO2A;NEM3	severe	ACTA1	ACTA1	1	1	Kristen Nowak
00106195	-	PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004	-	-	-	(United States)	-	-	-	-	-	CMYO2A;NEM3	severe	ACTA1	ACTA1	1	1	Alan Beggs
00106196	-	PubMed: Graziano et al, 2005	monozygous twins	-	-	(Italy)	-	-	-	-	-	CMYO2A;NEM3	intermediate	ACTA1	ACTA1	1	1	Kristen Nowak
00106197	-	PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004	-	-	-	(United States)	-	-	-	-	-	CMYO2A;NEM3	severe; no spontaneous movement or respiratory effort at birth; ventilator dependent	ACTA1	ACTA1	1	1	Alan Beggs
00106198	-	PubMed: Laing et al, 2009	-	-	-	(Finland)	-	-	-	-	-	CMYO2A;NEM3	severe	ACTA1	ACTA1	1	1	Kristen Nowak
00106199	-	PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004	-	-	-	(United States)	-	-	-	-	-	CMYO2A;NEM3	typical	ACTA1	ACTA1	1	1	Alan Beggs
00106201	-	PubMed: Agrawal et al, 2004	-	-	-	(United States)	-	-	-	-	-	CMYO2A;NEM3	typical; 3y-wheelchair bound; both patients hypotonic in first months of life	ACTA1	ACTA1	1	2	Alan Beggs
00106202	-	PubMed: Laing et al, 2009	-	-	-	(Germany)	-	-	-	-	-	CMYO2A;NEM3	severe	ACTA1	ACTA1	1	1	Kristen Nowak
00106203	-	PubMed: Nowak et al, 1999, PubMed: Sparrow et al, 2003, OMIM:var0001	sib1 from unaffected father and mother	-	-	(United States)	-	-	-	-	-	CMYO2A;NEM3	, severe	ACTA1	ACTA1	2	1	Kristen Nowak
00106204	-	PubMed: Laing et al, 2009	-	-	-	(Finland)	-	-	-	-	-	CMYO2A;NEM3	-	ACTA1	ACTA1	1	1	Kristen Nowak
00106206	-	PubMed: Ilkovski et al, 2004	-	-	-	(Australia)	-	-	-	-	-	CMYO2A;NEM3	arthrogryposis, contractures	ACTA1	ACTA1	1	1	Kristen Nowak
00106207	-	PubMed: Sparrow et al, 2003	-	-	-	(Finland)	-	-	-	-	-	CMYO2A;NEM3	severe	ACTA1	ACTA1	1	1	Kristen Nowak
00106209	-	PubMed: Nowak et al, 1999, PubMed: Sparrow et al, 2003, PubMed: Ilkovski et al, 2001, OMIM:var0002	affected mother, sister and daugther	-	-	(Australia)	-	-	-	-	-	CMYO2A;NEM3	typical	ACTA1	ACTA1	1	1	Kristen Nowak
00106210	-	PubMed: Sparrow et al, 2003	-	-	-	(Finland)	-	-	-	-	-	CMYO2A;NEM3	mild	ACTA1	ACTA1	1	1	Kristen Nowak
00106211	-	PubMed: Sparrow et al, 2003	-	-	-	-	-	-	-	-	-	CMYO2A;NEM3	mild	ACTA1	ACTA1	1	1	Kristen Nowak
00106212	-	PubMed: Sparrow et al, 2003	-	-	-	(South Africa)	-	00y00m01d	-	-	-	CMYO2A;NEM3	severe	ACTA1	ACTA1	1	1	Kristen Nowak
00106213	-	PubMed: Laing et al, 2009	-	-	-	(Finland)	-	-	-	-	-	CMYO2A;NEM3	mild	ACTA1	ACTA1	1	1	Kristen Nowak
00106214	-	PubMed: Laing et al, 2009	-	-	-	(Finland)	-	-	-	-	-	CMYO2A;NEM3	severe	ACTA1	ACTA1	1	1	Kristen Nowak
00106215	-	PubMed: Nowak et al, 1999, PubMed: Junglbuth et al, 2001, PubMed: Sparrow et al, 2003	-	-	-	(Finland)	-	-	-	-	-	CMYO2A;NEM3	mild	ACTA1	ACTA1	1	1	Kristen Nowak
00106216	-	PubMed: Sparrow et al, 2003	-	-	-	(Spain)	-	-	-	-	-	CMYO2A;NEM3	mild	ACTA1	ACTA1	1	1	Kristen Nowak
00106217	-	PubMed: Laing et al, 2009	-	-	-	(Finland)	-	-	-	-	-	CMYO2A;NEM3	typical; no parental DNA	ACTA1	ACTA1	1	1	Kristen Nowak
00106218	-	PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004	variant dominant, incompletely penetrant in mother and grandfather of proband	-	-	(United States)	-	-	-	-	-	CMYO2A;NEM3	typical	ACTA1	ACTA1	1	1	Alan Beggs
00106219	-	PubMed: Schnell et al, 2000, PubMed: Ilkovski et al, 2001, PubMed: Sparrow et al, 2003, OMIM:var0008	-	-	-	(Australia)	-	-	-	-	-	CMYO2A;NEM3	typical	ACTA1	ACTA1	1	1	Kristen Nowak
00106221	-	PubMed: Laing et al, 2009	-	-	-	(Belgium)	-	-	-	-	-	CMYO2A;NEM3	-	ACTA1	ACTA1	1	1	Kristen Nowak
00106223	-	PubMed: Sparrow et al, 2003	-	-	-	(France)	-	-	-	-	-	CMYO2A;NEM3	intranuclear rods; isolated case, parents not tested	ACTA1	ACTA1	1	1	Kristen Nowak
00106225	-	PubMed: Sparrow et al, 2003	affected mother and son	-	-	(France)	-	-	-	-	-	CMYO2A;NEM3	age onset 35y/10y	ACTA1	ACTA1	1	2	Kristen Nowak
00106230	-	PubMed: Sparrow et al, 2003	mother and daughter affected	-	-	(France)	-	-	-	-	-	CMYO2A;NEM3	mild, age onset 50y/30y	ACTA1	ACTA1	1	2	Kristen Nowak
00106232	-	PubMed: Sparrow et al, 2003, PubMed: Schroder et al, 2004	-	-	-	(Germany)	-	-	-	-	-	CMYO2A;NEM3	myopathy, nemaline, type 3 (NEM-3);AM;IRM	ACTA1	ACTA1	1	1	Kristen Nowak
00106237	-	PubMed: Sparrow et al, 2003, PubMed: Ilkovski et al, 2004, PubMed: Hutchinson et al, 2006, OMIM:var0014	-	-	-	(New Zealand)	-	-	-	-	-	CMYO2A;NEM3	myopathy, nemaline, type 3 (NEM-3); IRM; age onset 64y/34y/33y/3y	ACTA1	ACTA1	1	4	Kristen Nowak
00106239	-	PubMed: Laing et al, 2009	-	-	-	(Finland)	-	-	-	-	-	CMYO2A;NEM3	severe; do not have parental DNA	ACTA1	ACTA1	1	1	Kristen Nowak
00106240	-	PubMed: Laing et al, 2009	-	-	-	(Finland)	-	-	-	-	-	CMYO2A;NEM3	-	ACTA1	ACTA1	1	1	Kristen Nowak
00106241	-	PubMed: Sparrow et al, 2003	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	CMYO2A;NEM3	severe	ACTA1	ACTA1	1	1	Kristen Nowak
00106242	-	PubMed: Sparrow et al, 2003	-	-	-	(France)	-	-	-	-	-	CMYO2A;NEM3	mild	ACTA1	ACTA1	1	1	Kristen Nowak
00106243	-	PubMed: Sparrow et al, 2003	-	-	-	(France)	-	-	-	-	-	CMYO2A;NEM3	mild	ACTA1	ACTA1	1	1	Kristen Nowak
00106244	-	PubMed: Laing et al, 2009	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	CMYO2A;NEM3	intermediate	ACTA1	ACTA1	1	1	Kristen Nowak
00106248	-	PubMed: Agrawal et al, 2004	-	-	-	(United States)	-	-	-	-	-	CMYO2A;NEM3	severe	ACTA1	ACTA1	1	1	Alan Beggs
00106249	-	PubMed: Nowak et al, 2007	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	CMYO2A;NEM3	intermediate	ACTA1	ACTA1	1	1	Kristen Nowak
00106250	-	PubMed: Nowak et al, 2007	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	CMYO2A;NEM3	severe	ACTA1	ACTA1	1	1	Kristen Nowak
00106251	-	PubMed: Nowak et al, 2007	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	CMYO2A;NEM3	severe	ACTA1	ACTA1	1	1	Kristen Nowak
00106252	-	PubMed: Nowak et al, 2007	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	CMYO2A;NEM3	, severe; parental DNA not available, autosomal recessive, homozygous for the mutation	ACTA1	ACTA1	1	1	Kristen Nowak
00106253	-	PubMed: Nowak et al, 1999, PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004	-	-	-	(United States)	-	-	-	-	-	CMYO2A;NEM3	intermediate	ACTA1	ACTA1	1	1	Alan Beggs
00106254	-	PubMed: Nowak et al, 1999, PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004	somatic mosaicm in father	-	-	(France)	-	-	-	-	-	CMYO2A;NEM3	severe, age onset 1d/4d	ACTA1	ACTA1	1	2	Kristen Nowak
00106255	-	PubMed: Ilkovski et al, 2001, PubMed: Sparrow et al, 2003, PubMed: Ilkovski et al, 2004	-	-	-	(Australia)	-	-	-	-	-	CMYO2A;NEM3	severe	ACTA1	ACTA1	1	1	Kristen Nowak
00106256	-	PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004	-	-	-	(United States)	-	-	-	-	-	CMYO2A;NEM3	intermediate	ACTA1	ACTA1	1	1	Alan Beggs
00106257	-	PubMed: Laing et al, 2009	-	-	-	(France)	-	-	-	-	-	CMYO2A;NEM3	typical	ACTA1	ACTA1	1	1	Kristen Nowak
00106258	-	PubMed: Sparrow et al, 2003	-	-	-	(France)	-	-	-	-	-	CMYO2A;NEM3	-	ACTA1	ACTA1	1	1	Kristen Nowak
00106260	-	PubMed: Laing et al, 2009	-	-	-	(Canada)	-	-	-	-	-	CMYO2A;NEM3	severe; Tyr190*, small A peak, may be mosaic?	ACTA1	ACTA1	2	1	Kristen Nowak
00106261	-	PubMed: Laing et al, 2009	-	-	-	(France)	-	-	-	-	-	CMYO2A;NEM3	intermediate	ACTA1	ACTA1	1	1	Kristen Nowak
00106262	-	PubMed: Laing et al, 2009	-	-	-	(Germany)	-	-	-	-	-	CMYO2A;NEM3	severe	ACTA1	ACTA1	1	1	Kristen Nowak
00106263	-	PubMed: Sparrow et al, 2003	-	-	-	(Germany)	-	-	-	-	-	CMYO2A;NEM3	severe	ACTA1	ACTA1	1	1	Kristen Nowak
00106264	-	PubMed: Laing et al, 2009	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	CMYO2A;NEM3	-	ACTA1	ACTA1	1	1	Kristen Nowak
00106265	-	PubMed: Agrawal et al, 2004	-	-	-	(United States)	-	-	-	-	-	CMYO2A;NEM3	severe	ACTA1	ACTA1	1	1	Alan Beggs
00106266	-	PubMed: Laing et al, 2009	-	-	-	(Netherlands)	-	-	-	-	-	CMYO2A;NEM3	-	ACTA1	ACTA1	1	1	Kristen Nowak
00106267	-	PubMed: Laing et al, 2009	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	CMYO2A;NEM3	-	ACTA1	ACTA1	1	1	Kristen Nowak
00106268	-	PubMed: Laing et al, 2009	-	-	-	(New Zealand)	-	-	-	-	-	CMYO2A;NEM3	-	ACTA1	ACTA1	1	1	Kristen Nowak
00106269	-	PubMed: Laing et al, 2009	-	-	-	(France)	-	-	-	-	-	CMYO2A;NEM3	adult onset, mild, progressive; dominant,segregation not confirmed	ACTA1	ACTA1	1	1	Kristen Nowak
00106271	-	PubMed: Graziano et al, 2004	-	-	-	(Italy)	-	-	-	-	-	CMYO2A;NEM3	typical	ACTA1	ACTA1	2	1	Kristen Nowak
00106273	-	PubMed: Sparrow et al, 2003	-	-	-	(Japan)	-	-	-	-	-	CMYO2A;NEM3	severe	ACTA1	ACTA1	1	1	Kristen Nowak
00106274	-	PubMed: Laing et al, 2009	-	-	-	(Finland)	-	-	-	-	-	CMYO2A;NEM3	severe	ACTA1	ACTA1	1	1	Kristen Nowak
00106275	-	PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004	-	-	-	(United States)	-	-	-	-	-	CMYO2A;NEM3	typical	ACTA1	ACTA1	1	1	Alan Beggs
00106276	-	PubMed: Sparrow et al, 2003	-	-	-	(Belgium)	-	-	-	-	-	CMYO2A;NEM3	typical	ACTA1	ACTA1	1	1	Kristen Nowak
00106278	-	PubMed: Sparrow et al, 2003	-	-	-	(Germany)	-	-	-	-	-	CMYO2A;NEM3	severe	ACTA1	ACTA1	1	1	Kristen Nowak
00106279	-	PubMed: Laing et al, 2009	-	-	-	(France)	-	-	-	-	-	CMYO2A;NEM3	-	ACTA1	ACTA1	1	1	Kristen Nowak
00106280	-	PubMed: Sparrow et al, 2003	-	-	-	(Finland)	-	-	-	-	-	CMYO2A;NEM3	age onset 31y/58y	ACTA1	ACTA1	1	2	Kristen Nowak
00106281	-	PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004	-	-	-	(United States)	-	-	-	-	-	CMYO2A;NEM3	-	ACTA1	ACTA1	1	1	Alan Beggs
00106282	-	PubMed: Laing et al, 2009	-	-	-	(Canada)	-	-	-	-	-	CMYO2A;NEM3	rods pointed, lower limbs clearly weaker than upper limbs	ACTA1	ACTA1	1	1	Kristen Nowak
00106284	-	PubMed: Sparrow et al, 2003	-	-	-	(Japan)	-	-	-	-	-	CMYO2A;NEM3	severe; first clinical diagnosis was SMA	ACTA1	ACTA1	1	1	Kristen Nowak
00106285	-	PubMed: Laing et al, 2009	Patient of Carina Wallgren-Pettersson, Helsinki	-	-	-	-	-	-	-	-	CMYO2A;NEM3	severe; Disease severity stated in email from Carina to Dr Krcho, copied to Nigel Laing, 17.8.07	ACTA1	ACTA1	1	1	Kristen Nowak
00106286	-	PubMed: Sparrow et al, 2003	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	CMYO2A;NEM3	mild	ACTA1	ACTA1	1	1	Kristen Nowak
00106287	-	PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004	-	-	-	(United States)	-	-	-	-	-	CMYO2A;NEM3	mild, childhood onset; founders parents not tested; age onset 8y/14y/16y/39y/40y	ACTA1	ACTA1	1	5	Alan Beggs
00106288	-	PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004	-	-	-	(United States)	-	-	-	-	-	CMYO2A;NEM3	severe	ACTA1	ACTA1	1	1	Alan Beggs
00106289	-	PubMed: Nowak et al, 1999, PubMed: Sparrow et al, 2003	-	-	-	(Finland)	-	-	-	-	-	CMYO2A;NEM3	severe	ACTA1	ACTA1	1	1	Kristen Nowak
00106290	-	PubMed: Sparrow et al, 2003	-	-	-	(Japan)	-	-	-	-	-	CMYO2A;NEM3	severe	ACTA1	ACTA1	1	1	Kristen Nowak
00106291	-	PubMed: Wallgren-Pettersson et al, 2001, PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004	-	-	-	(United States)	-	-	-	-	-	CMYO2A;NEM3	severe; contractures, no spontaneous movement at birth	ACTA1	ACTA1	2	1	Alan Beggs
00106292	-	PubMed: Nowak et al, 1999, PubMed: Buxmann et al, 2001, PubMed: Sparrow et al, 2003	-	-	-	(Germany)	-	-	-	-	-	CMYO2A;NEM3	severe	ACTA1	ACTA1	1	1	Kristen Nowak
00106293	-	PubMed: Laing et al, 2009	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	CMYO2A;NEM3	typical; mother does not carry mutation, do not have paternal DNA	ACTA1	ACTA1	1	1	Kristen Nowak
00106294	-	PubMed: Laing et al, 2009	-	-	-	(Finland)	-	-	-	-	-	CMYO2A;NEM3	typical	ACTA1	ACTA1	1	1	Kristen Nowak
00106295	-	PubMed: Graziano et al, 2004	-	-	-	(Italy)	-	-	-	-	-	CMYO2A;NEM3	-	ACTA1	ACTA1	1	1	Kristen Nowak

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Global Variome shared LOVD

SOX9 (SRY (sex determining region Y)-box 9)