All individuals with variants in gene CHAT

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.

64 entries on 1 page. Showing entries 1 - 64.

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
00035192	-	-	-	-	-	Germany	-	-	-	-	-	?	Congenital masthenic syndrom	1	1	Andreas Laner
00035194	-	-	-	-	-	Germany	-	-	-	-	-	?, CMS	CMS with episodic apnea	2	1	Andreas Laner
00035195	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035196	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected CMS	1	1	Andreas Laner
00035197	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035198	-	-	-	-	-	Germany	-	-	-	-	-	?	abnormal development; suspected CMS	1	1	Andreas Laner
00035199	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035200	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035201	-	-	-	-	-	Germany	-	-	-	-	-	?	abnormal development; suspected CMS	1	1	Andreas Laner
00117930	patient 61	de Natera, 2017	-	F	no	Spain	-	-	-	-	-	CMS6	-	2	1	Ana Topf
00117931	patient 62	de Natera, 2017	-	M	no	Spain	-	-	-	-	-	CMS6	-	1	1	Ana Topf
00183249	Fam1	PubMed: O'Grady 2016	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	no	Philippines	-	-	-	-	-	CMS	see paper; ...	1	1	Johan den Dunnen
00205229	11172068-Pat2	PubMed: Ohno 2001	-	?	-	-	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00205230	11172068-Pat3	PubMed: Ohno 2001	-	?	-	-	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00205234	11172068-Pat4	PubMed: Ohno 2001	-	?	-	-	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00205236	11172068-Pat5	PubMed: Ohno 2001	-	?	-	-	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00205237	-	PubMed: Mubumbila 2002	-	?	-	-	-	-	-	-	-	AD	-	1	1	Johan den Dunnen
00205238	12548525-Fam3Pat5	PubMed: Maselli 2003	2-generation family, 1 affected, unaffected heterozygous carrier parents	?	-	United States	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00205240	12548525-Fam2Pat3/4	PubMed: Maselli 2003	2-generation family, 2 affected sibs, unaffected heterozygous carrier parents	?	-	United States	-	-	-	-	-	CMS	-	2	2	Johan den Dunnen
00205241	-	PubMed: Kraner 2003, PubMed: Schmidt 2003, PubMed: Schara 2010	4-generation family, 2 affected sibs	F	-	Turkey	-	>12y	-	-	-	CMS	-	2	1	Angela Abicht
00205242	-	PubMed: Barisic 2005	2-generation family, unaffected carrier parents	M	no	Croatia (Hrvatska)	-	>19m	-	-	-	CMS	-	2	1	Angela Abicht
00205243	18797171-Pat1	PubMed: Yeung 2009	2-generation family, 1 affected, unaffected heterozygous carrier parents	?	-	China	-	-	-	-	-	CMS	see paper; ..., congenital myasthenia gravis, complete ptosis, severe hypotonia, dysphagia, respiratory insufficiency with recurrent apnea requiring mechanical ventilatory support since birth	2	1	Johan den Dunnen
00205244	12548525-Fam1Pat1/2	PubMed: Maselli 2003	2-generation family, 2 affected sibs, unaffected heterozygous carrier parents	?	-	United States	-	-	-	-	-	CMS	-	2	2	Johan den Dunnen
00205245	-	PubMed: Mallory 2009	-	?	-	-	-	-	-	-	-	CMS	-	1	1	Johan den Dunnen
00205246	11172068-Pat1	PubMed: Ohno 2001	-	?	-	-	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00205247	-	-	-	F	no	(United States)	-	-	-	-	-	CMS	-	2	2	Andrew Engel
00205248	-	-	-	M	no	(United States)	-	-	-	-	-	CMS	-	2	2	Andrew Engel
00205249	-	-	-	M	no	(United States)	-	-	-	-	-	CMS	-	2	2	Andrew Engel
00205250	-	-	-	M	no	(United States)	-	-	-	-	-	CMS	-	2	2	Andrew Engel
00205251	-	-	-	M	no	(United States)	-	-	-	-	-	CMS	-	2	2	Andrew Engel
00205252	-	-	-	M	no	(United States)	-	-	-	-	-	CMS	-	2	2	Andrew Engel
00205253	-	-	-	F	yes	(United States)	-	-	-	-	-	CMS	-	1	1	Andrew Engel
00205254	-	-	-	F	no	(United States)	-	-	-	-	-	CMS	-	2	2	Andrew Engel
00205255	-	-	-	F	no	(United States)	-	-	-	-	-	CMS	-	2	2	Andrew Engel
00205256	-	-	-	F	no	(United States)	-	-	-	-	-	CMS	-	2	2	Andrew Engel
00205257	-	-	brother of Fam9-II2	M	no	(United States)	-	-	-	-	-	CMS	-	2	2	Andrew Engel
00205258	-	-	sister of Fam9-II1	F	no	(United States)	-	-	-	-	-	CMS	-	2	2	Andrew Engel
00205259	-	PubMed: Schara 2010	-	F	-	Italy	-	>1y7m	-	-	-	CMS	-	2	1	Angela Abicht
00205260	-	PubMed: Schara 2010	-	M	-	Lebanon	-	>2y	-	-	-	CMS	-	2	1	Angela Abicht
00205261	-	PubMed: Schara 2010	-	M	-	Turkey	-	>5y	-	-	-	CMS	-	2	1	Angela Abicht
00205262	-	PubMed: Schara 2010	-	M	-	Germany	-	>5y	-	-	-	CMS	-	2	1	Angela Abicht
00205263	-	PubMed: Barisic 2005	3-generation family, unaffected carrier parents/grandparents	F	no	Croatia (Hrvatska)	-	>26m	-	-	-	CMS	-	2	1	Angela Abicht
00205264	-	PubMed: Schara 2010	-	F	-	Finland	-	>12y	-	-	-	CMS	-	2	1	Angela Abicht
00205265	-	PubMed: Schara 2010	sib of 19900826-Pat07	M	-	Turkey	-	>14y	-	-	-	CMS	-	2	1	Angela Abicht
00205266	-	PubMed: Schara 2010	sib of 19900826-Pat06	M	-	Turkey	-	>5y	-	-	-	CMS	-	2	1	Angela Abicht
00205267	-	PubMed: Schara 2010	4-generation family, 2 affected sibs	M	-	Turkey	-	>3y	-	-	-	CMS	-	2	1	Angela Abicht
00205268	-	PubMed: Schara 2010	2-generation family, 1 affected/4 unaffected children	F	-	Turkey	-	>5y	-	-	-	CMS	-	2	1	Angela Abicht
00205269	-	PubMed: Schara 2010	-	F	-	Turkey	-	>7y	-	-	-	CMS	-	2	1	Angela Abicht
00205270	-	-	-	-	-	Germany	-	-	-	-	-	CMS	-	2	1	Angela Abicht
00205271	-	-	-	-	-	Germany	-	-	-	-	-	CMS	-	2	1	Angela Abicht
00205272	-	-	-	F	-	Sweden	Iraq, kurdish	-	-	-	-	CMS	myasthenic syndrome, congenital (CMS); episodic apnea	1	1	Tom Winder
00205273	-	-	-	M	-	United States	Lebanon	-	-	-	-	CMS	-	1	1	Tom Winder
00205274	-	-	-	F	-	United States	-	-	-	-	-	CMS	-	2	1	Tom Winder
00290050	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00290051	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	74	Mohammed Faruq
00290052	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	28	Mohammed Faruq
00290053	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	2	Mohammed Faruq
00304244	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00388639	Pat85	PubMed: Chakravorty 2020	-	M	-	India	India	-	-	-	-	MYOP	distal muscle weakness, proximal muscle weakness; CK level 587 IU/L; Rimmed vacuoles in muscle biopsies histochemistry; tripping on small objects, foot drop and sparing of quadriceps; most-affected muscles: Tibialis anterior, iliopsoas, adductors of thigh, hamstrings, and biceps brachi and first dorsal interosseous muscles; no cardiac involvement; 27y-ambulant	1	1	Johan den Dunnen
00406622	3	-	-	M	-	-	-	-	-	-	-	CMS6	-	2	1	Martin Krenn
00428220	Fam2PatII1	PubMed: Falb 2023, Journal: Falb 2023	family, 2 affected (F, M) (1 fetus)	M	-	Germany	-	0m	-	-	-	?	birth 33w; reduced fetal movements, polyhydramnios, pulmonary hypoplasia, hydrops fetalis; multiple joint contractures, rocker-bottom feet; no dysmorphism; respiratory insufficiency, pulmonary hypoplasia	2	2	Johan den Dunnen
00428221	Fam2PatII2	PubMed: Falb 2023, Journal: Falb 2023	fetus	F	-	Germany	-	<0d	-	-	-	?	termination pregnancy 23w; reduced fetal movements, velamentous insertion, lymphoedema of the feet, scalp oedema; contractures wrists, rocker-bottom feet; micrognathia, retrognathia, long philtrum; pulmonary hypoplasia, flexion anomaly of both hands	2	1	Johan den Dunnen
00437934	Pat3	PubMed: Erbe 2023	4-generation family, 2 affected (2M), 2 unaffected carrier females	M	-	Germany	-	-	-	-	-	DMD	see paper; ..., 1m-elevated CK level (increased during course disease up to over 17,000 U/L); 11m-muscle weakness, hypotonia proximal legs, arms, trunk, shoulders, face, pharynx; areflexia, multiple contractures; ositive Gowers sign, pseudohypertrophy calves/tongue; 11y-loss of ambulation; 24y-severe generalized muscle weakness,hypotonia with involvement facial/pharyngeal muscles, nourished through PEG tube, tracheotomized, ventilated entire day, significant reduction intelligence/dyslalia, never able to complete sentences	1	2	Johan den Dunnen
00442795	Pat167	PubMed: Westra 2019	-	M	-	-	-	-	-	-	-	NMD	-	1	1	Johan den Dunnen

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Global Variome shared LOVD

CHAT (choline O-acetyltransferase)