Disease #04168 (CNM (myopathy, centronuclear (CNM)))

Official abbreviation	CNM
Name	myopathy, centronuclear (CNM)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	521
Phenotype entries for this disease	517
Associated with 0 genes	-
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-12-24 12:43:57 +01:00 (CET)
Date last edited	2015-05-18 08:55:51 +02:00 (CEST)

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

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.

521 entries on 6 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6		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
00027184	-	PubMed: Agrawal 2014	2-generation family, 3 affecteds (F), unaffected heterozygous carrier parents and sib	F	yes	-	-	-	-	-	-	CNM	see paper; early death (2d, 2d, 3w)	SPEG	SPEG	1	3	Johan den Dunnen
00027185	-	PubMed: Agrawal 2014	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	-	-	-	-	-	-	CNM	severe hypotonia since birth; needed tracheostomy; 24 hr mechanical ventilation; gastrostomy; dilated cardiomyopathy; congestive cardiac failure in neonatal age was treated with digoxin and captopril; hypotrophic myofibers, marked increase in central nuclei	SPEG	SPEG	2	1	Johan den Dunnen
00027186	-	PubMed: Agrawal 2014	2-generation family, 3 affecteds (F fetus, 2M), unaffected heterozygous carrier parents	-	no	Turkey	-	-	-	-	-	CNM	hypotonia since birth, dilated cardiomyopathy and nephrolithiasis, orogastric feeds, no assisted ventilation; myopathic changes; variation in fiber size, more prominent in some fascicles, increased central nuclei in hypotrophic fibers, predominant type 1 fibers	SPEG	SPEG	2	1	Johan den Dunnen
00058404	-	PubMed: Ceyhan-Birsoy 2013	-	-	-	-	-	-	-	-	-	CNM	-	TTN	TTN	3	1	Claire Chauveau
00058405	-	PubMed: Ceyhan-Birsoy 2013	-	-	-	-	-	-	-	-	-	CNM	-	TTN	TTN	2	1	Claire Chauveau
00058406	-	PubMed: Ceyhan-Birsoy 2013	-	-	-	-	-	-	-	-	-	CNM	-	TTN	TTN	3	1	Claire Chauveau
00058407	?/PatD10	PubMed: Ceyhan-Birsoy 2013, PubMed: Cummings 2017	-	-	-	-	-	-	-	-	-	CNM	-	TTN	TTN	2	1	Claire Chauveau
00058408	-	PubMed: Ceyhan-Birsoy 2013	-	-	-	-	-	-	-	-	-	CNM	-	TTN	TTN	2	1	Claire Chauveau
00063838	-	PubMed: Fattori 2015, Journal: Fattori 2015	no family history, unaffected parents	M	-	Italy	-	>13y	-	-	-	CNM	0.20 central nuclei, minicores, type I predominance/no hypertrophy; respiratory problems (HP:0002093) at birth not at last exam, feeding problems (HP:0011968) at birth, hypotonia (HP:0001252) at birth, delayed motor milestones (HP:0001270), no abnormality extraocular muscles (-HP:0008049), scoliosis (HP:0002650), contractures ankles (HP:0006466)	TTN	TTN	2	1	Johan den Dunnen
00092216	-	-	-	M	no	Brazil	white	-	-	-	-	CNM	-	-	RYR1	2	1	Osorio Abath Neto
00092218	-	-	-	F	no	Brazil	white	-	-	-	-	CNM	-	A2M	RYR1	2	1	Osorio Abath Neto
00092219	-	-	-	M	no	Brazil	white	-	-	-	-	CNM	-	-	RYR1	2	1	Osorio Abath Neto
00092220	-	-	-	F	no	Brazil	white	-	-	-	-	CNM	-	-	RYR1	2	1	Osorio Abath Neto
00092221	-	-	-	M	no	Brazil	white	-	-	-	-	CNM	-	-	RYR1	2	1	Osorio Abath Neto
00092222	-	-	-	F	no	Brazil	white	-	-	-	-	CNM	-	-	RYR1	2	1	Osorio Abath Neto
00092223	-	-	-	M	no	Brazil	white	-	-	-	-	CNM	-	-	RYR1	2	1	Osorio Abath Neto
00092224	-	-	-	F	no	Brazil	white	-	-	-	-	CNM	-	-	RYR1	2	1	Osorio Abath Neto
00092225	-	-	-	F	no	Brazil	white, African	-	-	-	-	CNM	-	-	RYR1	2	1	Osorio Abath Neto
00092226	-	-	-	F	no	Brazil	white	-	-	-	-	CNM	-	-	RYR1	2	1	Osorio Abath Neto
00092227	-	-	-	F	no	Brazil	white, African	-	-	-	-	CNM	-	-	RYR1	2	1	Osorio Abath Neto
00092228	-	-	-	M	no	Brazil	white, African	-	-	-	-	CNM	-	-	RYR1	2	1	Osorio Abath Neto
00092229	-	-	-	M	no	Argentina	white	-	-	-	-	CNM	-	-	RYR1	2	1	Osorio Abath Neto
00092230	-	-	-	F	no	Argentina	white	-	-	-	-	CNM	-	-	RYR1	2	1	Osorio Abath Neto
00092231	-	-	-	F	no	United States	white	-	-	-	-	CNM	-	-	RYR1	2	1	Osorio Abath Neto
00092232	-	-	-	F	no	United States	African	-	-	-	-	CNM	-	-	RYR1	2	1	Osorio Abath Neto
00092233	-	-	-	F	no	United States	white	-	-	-	-	CNM	-	-	RYR1	2	1	Osorio Abath Neto
00092234	-	-	-	F	no	United States	white	-	-	-	-	CNM	-	-	RYR1	2	1	Osorio Abath Neto
00092235	-	-	-	M	no	France	white	-	-	-	-	CNM	-	-	RYR1	2	1	Osorio Abath Neto
00092236	-	-	-	F	no	France	white	-	-	-	-	CNM	-	-	RYR1	2	1	Osorio Abath Neto
00092237	-	-	-	F	no	Turkey	white	-	-	-	-	CNM	-	-	RYR1	2	1	Osorio Abath Neto
00144502	29103045-Pat	PubMed: Kouwenberg 2017	family, several affecteds	-	-	Netherlands	-	-	-	-	-	CNM	pronounced myalgia, exercise intolerance, large muscle mass, childhood onset in youngest generation, mild cognitive features	BIN1	BIN1	1	1	Johan den Dunnen
00211483	-	PubMed: Hu 1996, PubMed: Laporte 1996, PubMed: Tosch 2010	-	M	-	-	-	11m	-	-	-	CNM	Severe, additional hypospadias	MTM1	MTM1	1	1	Johan den Dunnen
00211484	-	PubMed: Hu 1996, PubMed: Laporte 1996; PubMed: Laporte 2000	-	M	-	-	-	3m	-	-	-	CNM	Severe	MTM1	MTM1	1	1	Johan den Dunnen
00211485	-	PubMed: Tanner 1999a	-	M	-	China	-	-	-	-	-	CNM	Severe	MTM1	MTM1	1	1	Jorge Oliveira
00211486	1	PubMed: Herman 1999	-	M	-	-	-	>7y	-	-	-	CNM	Severe	MTM1	MTM1	1	1	Jorge Oliveira
00211487	2	PubMed: Herman 1999	-	M	-	-	-	>2y	-	-	-	CNM	Mild	MTM1	MTM1	1	1	Jorge Oliveira
00211488	48	PubMed: Herman 2002	-	M	-	United States	-	-	-	-	-	CNM	Severe	MTM1	MTM1	1	1	Jorge Oliveira
00211489	49	PubMed: Herman 2002	-	M	-	United States	-	-	-	-	-	CNM	Severe	MTM1	MTM1	1	1	Jorge Oliveira
00211490	3	PubMed: Herman 1999	-	M	-	-	-	>4y	-	-	-	CNM	Severe	MTM1	MTM1	1	1	Jorge Oliveira
00211491	-	PubMed: Tanner 1999a	-	M	-	Australia	-	-	-	-	-	CNM	Severe	MTM1	MTM1	1	1	Jorge Oliveira
00211492	-	PubMed: Tanner 1999a	-	M	-	United Kingdom (Great Britain)	-	-	-	-	-	CNM	Severe	MTM1	MTM1	1	1	Jorge Oliveira
00211493	-	PubMed: Laporte 1997	-	M	-	-	-	-	-	-	-	CNM	?	MTM1	MTM1	1	1	Jorge Oliveira
00211494	-	PubMed: Biancalana 2003	-	M	-	-	-	>5y	-	-	-	CNM	Moderate; walk-17m	MTM1	MTM1	1	1	Jorge Oliveira
00211495	-	PubMed: Herman 1999, PubMed: Herman 2002	-	M	-	United States	-	-	-	-	-	CNM	Severe	MTM1	MTM1	1	1	Jorge Oliveira
00211496	-	PubMed: Biancalana 2003	-	M	-	-	-	-	-	-	-	CNM	?	MTM1	MTM1	1	1	Jorge Oliveira
00211497	-	PubMed: Laporte 2000	-	M	-	-	-	-	-	-	-	CNM	Severe	MTM1	MTM1	1	1	Jorge Oliveira
00211498	-	PubMed: Laporte 1997	-	M	-	-	-	-	-	-	-	CNM	?	MTM1	MTM1	1	1	Jorge Oliveira
00211499	-	PubMed: Biancalana 2003	-	M	-	-	-	-	-	-	-	CNM	Severe	MTM1	MTM1	1	1	Jorge Oliveira
00211500	-	PubMed: Laporte 2000	-	M	-	-	-	-	-	-	-	CNM	?	MTM1	MTM1	1	1	Jorge Oliveira
00211501	-	PubMed: Herman 1999, PubMed: Herman 2002	-	M	-	United States	-	>15y	-	-	-	CNM	Mild; walk	MTM1	MTM1	1	2	Jorge Oliveira
00211502	-	PubMed: Biancalana 2003	-	M	-	-	-	-	-	-	-	CNM	Severe	MTM1	MTM1	1	1	Jorge Oliveira
00211503	27	PubMed: Herman 2002	-	M	-	United States	-	-	-	-	-	CNM	Severe	MTM1	MTM1	1	1	Jorge Oliveira
00211504	-	-	-	M	no	United Kingdom (Great Britain)	-	10m	-	-	-	CNM	Severe	MTM1	MTM1	1	1	Jorge Oliveira
00211505	-	PubMed: Laporte 1997	-	M	-	-	-	-	-	-	-	CNM	?	MTM1	MTM1	1	1	Jorge Oliveira
00211506	-	PubMed: Tanner 1999a	-	M	-	Norway	-	-	-	-	-	CNM	severe, neonatal death	MTM1	MTM1	1	1	Jorge Oliveira
00211507	-	PubMed: Tanner 1999a	-	M	-	Lebanon	-	-	-	-	-	CNM	severe, neonatal death	MTM1	MTM1	1	1	Jorge Oliveira
00211508	38	PubMed: Herman 2002	-	M	-	United States	-	-	-	-	-	CNM	Severe	MTM1	MTM1	1	1	Jorge Oliveira
00211509	-	-	-	M	-	Portugal	-	-	-	-	-	CNM	-	MTM1	MTM1	1	1	Jorge Oliveira
00211510	-	PubMed: Laporte 1997	-	M	-	-	-	-	-	-	-	CNM	-	MTM1	MTM1	1	1	Jorge Oliveira
00211511	-	PubMed: Laporte 1997	-	M	-	-	-	-	-	-	-	CNM	Severe	MTM1	MTM1	1	1	Jorge Oliveira
00211512	-	PubMed: Laporte 2000	-	M	-	-	-	-	-	-	-	CNM	Severe	MTM1	MTM1	1	1	Jorge Oliveira
00211513	-	PubMed: Buj-Bello 1999	-	M	-	-	-	-	-	-	-	CNM	Severe	MTM1	MTM1	1	1	Jorge Oliveira
00211514	-	PubMed: Buj-Bello 1999	-	M	-	-	-	-	-	-	-	CNM	Severe	MTM1	MTM1	1	1	Jorge Oliveira
00211515	patient in publication	PubMed: Tachi 2001	-	M	-	-	-	-	-	-	-	CNM	-	MTM1	MTM1	2	1	Jorge Oliveira
00211516	-	PubMed: Buj-Bello 1999	-	F	-	-	-	3m	-	-	-	CNM	Severe	MTM1	MTM1	1	1	Jorge Oliveira
00211517	-	PubMed: Biancalana 2003	-	M	-	-	-	-	-	-	-	CNM	Severe	MTM1	MTM1	1	1	Jorge Oliveira
00211518	-	PubMed: Tanner 1999a	-	M	-	Italy	-	-	-	-	-	CNM	severe, neonatal death	MTM1	MTM1	1	1	Jorge Oliveira
00211519	-	PubMed: Tanner 1999a	-	M	-	Finland	-	-	-	-	-	CNM	severe, neonatal death	MTM1	MTM1	1	1	Jorge Oliveira
00211520	-	PubMed: Tanner 1999a	-	M	-	United States	-	-	-	-	-	CNM	severe, neonatal death	MTM1	MTM1	1	1	Jorge Oliveira
00211521	-	PubMed: Flex 2002	-	F	-	Italy	-	-	-	-	-	CNM	Mild	MTM1	MTM1	1	1	Jorge Oliveira
00211522	-	PubMed: Laporte 1997	-	M	-	-	-	7m	-	-	-	CNM	Severe	MTM1	MTM1	1	1	Jorge Oliveira
00211523	-	PubMed: Tanner 1999a	-	M	-	France	-	-	-	-	-	CNM	severe, neonatal death	MTM1	MTM1	1	1	Jorge Oliveira
00211524	-	PubMed: Buj-Bello 1999	-	M	-	-	-	15m	-	-	-	CNM	Severe	MTM1	MTM1	1	1	Jorge Oliveira
00211525	-	-	-	M	-	Portugal	-	-	-	-	-	CNM	-	MTM1	MTM1	1	1	Jorge Oliveira
00211526	2	PubMed: Herman 2002	-	M	-	United States	-	-	-	-	-	CNM	Severe	MTM1	MTM1	1	1	Jorge Oliveira
00211527	13	PubMed: Tsai 2005	-	M	-	Japan	-	-	-	-	-	CNM	Severe	MTM1	MTM1	1	1	Jorge Oliveira
00211528	-	PubMed: Laporte 1997	-	M	-	-	-	>3y	-	-	-	CNM	Mild or moderate	MTM1	MTM1	1	1	Jorge Oliveira
00211529	-	PubMed: de Gouyon 1997	-	M	-	-	-	>3y	-	-	-	CNM	Mild	MTM1	MTM1	1	1	Jorge Oliveira
00211530	-	PubMed: de Gouyon 1997	-	M	-	-	-	-	-	-	-	CNM	-	MTM1	MTM1	1	1	Jorge Oliveira
00211531	-	PubMed: de Gouyon 1997	-	M	-	-	-	>2y	-	-	-	CNM	Mild	MTM1	MTM1	1	1	Jorge Oliveira
00211532	-	PubMed: Biancalana 2003	-	M	-	-	-	-	-	-	-	CNM	?	MTM1	MTM1	1	1	Jorge Oliveira
00211533	-	PubMed: Laporte 1997, PubMed: Barth 1998, PubMed: Laporte 2000	-	M	-	-	-	>54y	-	-	-	CNM	Mild or moderate	MTM1	MTM1	1	1	Jorge Oliveira
00211534	-	PubMed: Tanner 1999a	-	M	-	United States	-	-	-	-	-	CNM	Severe	MTM1	MTM1	1	1	Jorge Oliveira
00211535	-	PubMed: Laporte 1997	-	M	-	-	-	11m	-	-	-	CNM	Severe	MTM1	MTM1	1	1	Jorge Oliveira
00211536	-	PubMed: Laporte 2000	-	M	-	-	-	-	-	-	-	CNM	Severe	MTM1	MTM1	1	1	Jorge Oliveira
00211537	-	PubMed: Biancalana 2003	-	M	-	-	-	-	-	-	-	CNM	?	MTM1	MTM1	1	1	Jorge Oliveira
00211538	-	PubMed: Biancalana 2003	-	M	-	-	-	-	-	-	-	CNM	Severe	MTM1	MTM1	1	1	Jorge Oliveira
00211539	-	PubMed: de Gouyon 1997	-	M	-	United States	-	>4y	-	-	-	CNM	Severe	MTM1	MTM1	1	1	Jorge Oliveira
00211540	-	PubMed: de Gouyon 1997	-	M	-	United States	-	4y	-	-	-	CNM	Severe	MTM1	MTM1	1	1	Jorge Oliveira
00211541	-	PubMed: de Gouyon 1997	-	M	-	United States	-	>3y	-	-	-	CNM	Severe	MTM1	MTM1	1	1	Jorge Oliveira
00211542	-	PubMed: de Gouyon 1997	-	M	-	United States	-	>9y	-	-	-	CNM	Severe	MTM1	MTM1	1	1	Jorge Oliveira
00211543	-	PubMed: Biancalana 2003	-	M	-	-	-	-	-	-	-	CNM	?	MTM1	MTM1	1	1	Jorge Oliveira
00211544	-	PubMed: Biancalana 2003	-	M	-	-	-	-	-	-	-	CNM	Severe	MTM1	MTM1	1	1	Jorge Oliveira
00211545	-	PubMed: Biancalana 2003	-	M	-	-	-	-	-	-	-	CNM	Severe	MTM1	MTM1	1	1	Jorge Oliveira
00211546	-	PubMed: Laporte 1997, PubMed: Tanner 1998	-	M	-	-	-	6m	-	-	-	CNM	Severe	MTM1	MTM1	1	1	Jorge Oliveira
00211547	-	PubMed: Laporte 1997	-	M	-	-	-	1m	-	-	-	CNM	Severe	MTM1	MTM1	1	1	Jorge Oliveira
00211548	-	PubMed: Laporte 1997	-	M	-	-	-	<10d	-	-	-	CNM	Severe	MTM1	MTM1	1	1	Jorge Oliveira
00211549	-	PubMed: Tanner 1999a	-	M	-	-	-	-	-	-	-	CNM	Severe	MTM1	MTM1	1	1	Jorge Oliveira
00211550	-	PubMed: Laporte 2000	-	M	-	-	-	>1y	-	-	-	CNM	Severe	MTM1	MTM1	1	1	Jorge Oliveira
00211551	-	PubMed: Buj-Bello 1999	-	M	-	-	-	17d	-	-	-	CNM	Severe	MTM1	MTM1	1	1	Jorge Oliveira

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6		Next ›	Last »

Global Variome shared LOVD

MTOR (mechanistic target of rapamycin (serine/thre...))