Disease #04312 (CMS (myasthenic syndrome, congenital (CMS)))

Official abbreviation	CMS
Name	myasthenic syndrome, congenital (CMS)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	758
Phenotype entries for this disease	677
Associated with 1 gene	PREPL
Associated tissues	-
Disease features	-
Remarks	-
Date created	2015-08-28 20:21:50 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

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.

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Operator	Column type	Example	Matches
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\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
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^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
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=""	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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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'

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758 entries on 8 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6	7	8		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
00035194	-	-	-	-	-	Germany	-	-	-	-	-	?, CMS	CMS with episodic apnea	CHAT	CHAT	2	1	Andreas Laner
00057882	-	PubMed: Huze 2009	sister of 19631309-III.4; 5 asymptomatic carriers	F	yes	Switzerland	-	>42y	-	-	-	CMS	42y-mild bilateral lid ptosis, mild facial weakness, normal function axial muscles, glutei/psoas muscles slightly weak (MRC4+/5), difficulty walking on heels, thorax/pelvis thin	AGRN	AGRN	2	1	Johan den Dunnen
00057883	-	PubMed: Huze 2009	brother of 19631309-III.5; 5 asymptomatic carriers	M	yes	Switzerland	-	>36y	-	-	-	CMS	difficulties running since early childhood, fluctuating right ptosis, intermittent mild masticatory difficulties (no dyspnea), thin thorax, flat feet	AGRN	AGRN	2	1	Johan den Dunnen
00057884	-	PubMed: Huze 2009	2-generation family, affected brother/sister, unaffected heterozygous carrier parents/sibs	-	yes	-	-	-	-	-	-	CMS	-	AGRN	AGRN	1	2	Johan den Dunnen
00065207	26626625-Fam1PatII1	PubMed: Logan 2016, Journal: Logan 2016	2-generation family, 1 affected, unaffected heterozygous carrier mother	F	no	United Kingdom (Great Britain)	white, European	>02y	-	-	combination of 3,4-diaminopyridine, salbutamol, non-invasive ventilation and pyridostigmine	CMS	breathing difficulty (HP:0002094), feeding difficulty (HP:0011968), ptosis (HP:0000508), no ophthalmoparesis (-HP:0000597), no facial weakness (-HP:0010628), bulbar weakness (HP:0001283), proximal weakness upper limbs (HP:0008997), proximal weakness lower limbs (HP:0008994), distal weakness upper limbs (HP:0008959), distal weakness lower limbs (HP:0009053), axial weakness (HP:0003327), distal-joint laxity (HP:0002761), no contractures (-HP:0001371), no spinal rigidity (-HP:0003306), dysmorphic features (HP:0001999), decrement on RNS (HP:0003403), abnormal jitter (HP:?), lower-respiratory-tract infection (HP:0002783), variation in fiber size (HP:0003557), generalized hypotonia (HP:0001290), gastroesophageal reflux (HP:0002020)	COL13A1	COL13A1	1	1	Jamie Zeegers
00065215	26626625-Fam2PatII1	PubMed: Logan 2016, Journal: Logan 2016	2-generation family, affected brother/sister, unaffected heterozygous carrier parents	M	yes	United Kingdom (Great Britain)	Indian	>27y	-	-	-	CMS	feeding difficulty (HP:0011968), ptosis (HP:0000508), no ophthalmoparesis (-HP:0000597), facial weakness (HP:0010628), no bulbar weakness (-HP:0001283), no proximal weakness upper limbs (-HP:0008997), no proximal weakness lower limbs (-HP:0008994), distal weakness upper limbs (HP:0008959), no distal weakness lower limbs (-HP:0009053), right axial weakness (HP:0003327), no distal-joint laxity (-HP:0002761), no contractures (-HP:0001371), spinal rigidity (HP:0003306), dysmorphic features (HP:0001999), mild learning difficulties (HP:0001328), decrement on RNS (HP:0003403), abnormal jitter (HP:?), lower-respiratory-tract infection (HP:0002783), dyspnoea on exertion (HP:0001328), recurrent chest infections (HP:0002783)	COL13A1	COL13A1	1	2	Jamie Zeegers
00065217	26626625-Fam2PatII2	PubMed: Logan 2016, Journal: Logan 2016	-	F	yes	United Kingdom (Great Britain)	Indian	08y	-	-	Non-invasive ventilation and pyridostigmine treatment	CMS	breathing difficulty (HP:0002094), feeding difficulty (HP:0011968), ptosis (HP:0000508), right ophthalmoparesis (HP:0000597), facial weakness (HP:0010628), bulbar weakness (HP:0001283), proximal weakness upper limbs (HP:0008997), proximal weakness lower limbs (HP:0008994), distal weakness upper limbs (HP:0008959), distal weakness lower limbs (HP:0009053), axial weakness (HP:0003327), distal-joint laxity (HP:0002761), no contractures (-HP:0001371), spinal rigidity (HP:0003306), dysmorphic features (HP:0001999), lower-respiratory-tract infection (HP:0002783), chronic lung disease (HP:0006528), hiatus and diaphragmatic hernia (HP:0002036), recurrent chest infection (HP:0002783)	COL13A1	COL13A1	1	1	Jamie Zeegers
00065266	-	-	-	M	?	-	-	-	-	-	-	CMS	-	AKD1	AKD1	1	1	Eric Law
00078891	-	-	family, 2 affecteds, 2 unaffecteds	M	yes	Hong Kong	-	-	-	-	-	CMS	unable to work due to general weakness	AKD1, RAPSN	AKD1, RAPSN	2	4	Chun Yiu Law
00152961	FamPat1	PubMed: Sine 1995	3-generation family, 5 affected (2F, 3M)	F;M	-	Germany	-	-	-	-	-	CMS	-	CHRNA1	CHRNA1, CHRNB1, CHRND, CHRNE	5	5	Johan den Dunnen
00152962	-	PubMed: Engel 1996	3-generation family, affected girl/mother/grandmother	F	-	United States	-	>30y	-	-	-	CMS	8y-limb muscle weakness; 10y-scoliosis, able to walk 100 yards, cannot climb stairs unassisted; EMG decremental response on stimulation motor nerves, repetitive compound muscle action potential response to single nerve stimuli; age onset early childhood	CHRNA1	CHRNA1, CHRND, CHRNE	8	3	Johan den Dunnen
00152963	Pat1	PubMed: Croxen 1997	2-generation family, only affected child of 6	M	-	-	-	>34y	-	-	-	CMS	facial/neck/upper limb weakness, slight difficulty chewing/swallowing, eye movements normal, wasting forearm/hand muscles, no AChR antibodies, single nerve stimuli did not elicit repetitive compound muscle, action potentials	CHRNA1	CHRNA1	1	1	Johan den Dunnen
00152964	Pat2	PubMed: Chauplannaz 1994	-	F	-	France	-	>60y	-	-	-	CMS	generalised weakness (sparing extraocular muscles), prominent wasting/weakness finger extensor muscles, atrophy cervical muscles, developed respiratory problems (diaphragmatic weakness), deterioration occurred, no AChR antibodies, single nerve stimuli elicited repetitive compound muscle action potentials	CHRNA1	CHRNA1	1	2	Johan den Dunnen
00152965	Pat4/C1;Pat1	PubMed: Oosterhuis 1987, PubMed: Croxen 1997, PubMed: Boon 2022	3-generation family, 1 affected	F	-	Netherlands	-	>28y	-	-	-	CMS	see paper; ..., very extensive over 40 years; generalized myasthenic weakness, mild hand muscle wasting, no AChR antibodies, reacted adversely to anticholinesterase drugs; EMG repetitive muscle response single nerve stimulus	CHRNA1	CHRNA1	1	1	Johan den Dunnen
00152966	-	PubMed: Milone 1997	-	-	-	-	-	-	-	-	-	CMS	-	CHRNA1	CHRNA1	1	1	Johan den Dunnen
00152967	-	PubMed: Wang 1999	-	-	-	-	-	-	-	-	-	CMS	-	CHRNA1	CHRNA1	1	1	Johan den Dunnen
00152968	-	PubMed: Wang 1999	-	-	-	-	-	-	-	-	-	CMS	-	CHRNA1	CHRNA1	1	1	Johan den Dunnen
00152969	-	PubMed: Beeson 2003	-	-	-	-	-	-	-	-	-	CMS	-	CHRNA1	CHRNA1	1	1	Johan den Dunnen
00152970	-	PubMed: Shen 2006	-	-	-	-	-	-	-	-	-	CMS	-	CHRNA1	CHRNA1	1	1	Johan den Dunnen
00152973	-	PubMed: Masuda 2008	-	-	-	-	-	-	-	-	-	CMS	-	CHRNA1	CHRNA1	1	1	Johan den Dunnen
00152974	-	-	-	-	-	-	-	-	-	-	-	CMS	-	CHRNA1	CHRNA1	1	1	Johan den Dunnen
00152975	-	-	-	-	-	-	-	-	-	-	-	CMS	-	CHRNA1	CHRNA1	1	1	Johan den Dunnen
00152976	-	-	-	-	-	-	-	-	-	-	-	CMS	-	CHRNA1	CHRNA1	1	1	Johan den Dunnen
00152977	-	-	-	-	-	-	-	-	-	-	-	CMS	-	CHRNA1	CHRNA1	1	1	Johan den Dunnen
00152978	-	-	-	-	-	-	-	-	-	-	-	CMS	-	CHRNA1	CHRNA1	1	1	Johan den Dunnen
00152979	-	-	-	-	-	-	-	-	-	-	-	CMS	-	CHRNA1	CHRNA1	1	1	Johan den Dunnen
00152980	-	-	-	-	-	-	-	-	-	-	-	CMS	-	CHRNA1	CHRNA1	1	1	Johan den Dunnen
00152981	-	-	-	-	-	-	-	-	-	-	-	CMS	-	CHRNA1	CHRNA1	1	1	Johan den Dunnen
00152982	-	PubMed: Giraud 2007	-	-	-	-	-	-	-	-	-	CMS	-	CHRNA1	CHRNA1	1	1	Johan den Dunnen
00152983	-	PubMed: Masuda 2008	-	-	-	-	-	-	-	-	-	CMS	-	CHRNA1	CHRNA1	1	1	Johan den Dunnen
00152984	-	PubMed: Engel 1996	2-generation family, affected boy	M	-	United States	-	>16y	-	-	-	CMS	7y-intermittent episodes respiratory insufficiency requiring ventilatory support; EMG decremental response on stimulation motor nerves, repetitive compound muscle action potential response to single nerve stimuli; age onset early infancy	CHRNA1	CHRNA1, CHRNB1, CHRND, CHRNE	9	1	Johan den Dunnen
00152985	-	PubMed: Ohno 1996	3-generation family, unaffected carrier parents/son	F	-	Germany	-	-	-	-	-	CMS	-	CHRNA1	CHRNA1, CHRNE	8	1	Johan den Dunnen
00152986	-	PubMed: Ohno 1997	3-generation family, affected brother/sister	-	-	-	-	-	-	-	-	CMS	-	CHRNA1	CHRNA1, CHRNB1, CHRND, CHRNE	9	2	Johan den Dunnen
00152987	-	PubMed: Ohno 1997	2-generation family, 2 affected brothers	M	-	-	-	-	-	-	-	CMS	-	CHRNA1	CHRNA1, CHRNB1, CHRND, CHRNE	6	2	Johan den Dunnen
00152988	-	PubMed: Ohno 1999	2-generation family, affected brother/sister, unaffected carrier parents	M	-	Turkey	-	>12y	-	-	-	CMS	developmental motor milestones normal; 12y-ptosis, limited eye movements, no limb weakness	CHRNA1	CHRNA1, CHRND, CHRNE	8	1	Johan den Dunnen
00152989	-	PubMed: Ohno 1999	2-generation family, affected brother/sister, unaffected carrier parents	F	-	Turkey	-	>14y	-	-	-	CMS	myasthenic symptoms; 14y normal	CHRNA1	CHRNA1, CHRND, CHRNE	8	1	Johan den Dunnen
00152991	Pat1	PubMed: Chauplannaz 1994	-	F	-	-	-	>41y	-	-	-	CMS	generalised weakness (sparing extraocular muscles), prominent wasting/weakness finger extensor muscles, deterioration months after pregnancy, no AChR antibodies AChR, single nerve stimuli elicited repetitive compound muscle action potentials; age onset infancy	CHRNA1	CHRNA1	1	2	Johan den Dunnen
00152992	-	-	-	-	-	Germany	-	-	-	-	-	CMS	phenotype compatible with SCCMS	CHRNA1	CHRNA1	1	1	Angela Abicht
00152993	-	-	2-generation family, 2 affected brothers; family history suggesting autosomal dominant inheritance	-	-	Germany	-	-	-	-	-	CMS	phenotype compatible with SCCMS	CHRNA1	CHRNA1	1	2	Angela Abicht
00152994	-	PubMed: Sine 1995	-	-	-	Germany	-	-	-	-	-	CMS	-	CHRNA1	CHRNA1, CHRND, CHRNE	4	1	Johan den Dunnen
00152995	-	-	-	-	-	Germany	-	-	-	-	-	CMS	-	CHRNA1	CHRNA1	1	1	Angela Abicht
00152996	-	-	-	-	-	Germany	-	-	-	-	-	CMS	-	CHRNA1	CHRNA1	1	1	Angela Abicht
00152997	-	-	-	-	-	Germany	-	-	-	-	-	CMS	-	CHRNA1	CHRNA1	1	1	Angela Abicht
00153006	Pat3	PubMed: Croxen 1997	3-generation family, affected mother/daughter	F	-	-	-	-	-	-	-	CMS	-	CHRNA1	CHRNA1	1	2	Johan den Dunnen
00153009	Pat2	PubMed: Croxen 1997	3-generation family, 3 affected (F, 2M)	F;M	-	-	-	-	-	-	-	CMS	-	CHRNA1	CHRNA1	1	3	Johan den Dunnen
00153010	-	-	-	F	-	United States	-	-	-	-	-	CMS	global developmental delay, hypotonia, gait problems, weakness	CHRNA1	CHRNA1	1	1	Tom Winder
00153035	-	PubMed: Gomez 1996	2-generation family, unaffected parents/siblings	-	-	United States	-	>32y	-	-	-	CMS	5y-walking; 8y-ophthalmoparesis; 10y-fatigability; 13y-contractures knee/hip; 13y-loss ambulation; positive edrophonium test	CHRNB1	CHRNB1	1	1	Johan den Dunnen
00153036	-	PubMed: Engel 1996	3-generation family, affected girl	F	-	United States	-	>19y	-	-	-	CMS	myasthenic symptoms involving ocular, other cranial and limb muscles; EMG decremental response on stimulation motor nerves, repetitive compound muscle action potential response to single nerve stimuli	CHRNB1	CHRNB1	1	1	Johan den Dunnen
00153037	-	PubMed: Quiram 1999	2-generation family, affected girl and younger sister and brother	F	-	-	-	>8y	-	-	-	CMS	EMG decremental response on stimulation motor nerves, partial response to cholinesterase inhibitors	CHRNB1	CHRNB1, CHRNE	7	3	Johan den Dunnen
00153039	-	Gomez 1998 acc. to PubMed: Ohno 2003	-	-	-	-	-	-	-	-	-	CMS	-	CHRNB1	-	-	1	Johan den Dunnen
00153045	-	PubMed: Mihaylova 2010, PubMed: Chaouch 2011	3-generation family, affected girl	M	no	Portugal;Lebanon	-	>31y	-	-	-	CMS	bulbar weakness, scapular winging, scoliosis, hand atrophy	CHRNB1	CHRNB1	1	1	Johan den Dunnen
00153046	-	PubMed: Chaouch 2011	daugther of 21822932-Pat09	F	-	Serbia	-	>47y	-	-	-	CMS	phenotype compatible with adult onset SCCMS	CHRNB1	CHRNB1	1	1	Angela Abicht
00153047	-	PubMed: Chaouch 2011	mother of 21822932-Pat08	F	-	Serbia	-	>73y	-	-	-	CMS	phenotype compatible with adult onset SCCMS	CHRNB1	CHRNB1	1	1	Angela Abicht
00153048	-	-	found heterozygously in patient with no family history	-	-	Germany	-	-	-	-	-	CMS	phenotype compatible with early onset SCCMS	CHRNB1	CHRNB1	1	1	Angela Abicht
00153049	-	-	-	-	-	Germany	-	-	-	-	-	CMS	-	CHRNB1	CHRNB1	2	1	Angela Abicht
00153050	-	-	patient has unaffected carrier father	-	-	Germany	-	-	-	-	-	CMS	-	CHRNB1	CHRNB1	2	1	Angela Abicht
00153052	-	-	-	-	-	Germany	-	-	-	-	-	CMS	-	CHRNB1	CHRNB1	2	1	Angela Abicht
00153053	-	-	patient has unaffected carrier father	-	-	Germany	-	-	-	-	-	CMS	-	CHRNB1	CHRNB1, DOK7	3	2	Angela Abicht
00153055	-	-	-	-	-	Germany	-	-	-	-	-	CMS	-	CHRNB1	CHRNB1	2	1	Angela Abicht
00153056	-	-	patient has unaffected carrier father	-	-	Germany	-	-	-	-	-	CMS	-	CHRNB1	CHRNB1	1	1	Angela Abicht
00153061	-	-	-	M	-	United States	-	-	-	-	-	CMS	-	CHRNB1	CHRNB1	1	1	Tom Winder
00153063	-	PubMed: Engel 1996	3-generation family, affected girl	F	-	United States	-	>19y	-	-	-	CMS	myasthenic symptoms involving ocular, other cranial and limb muscles; EMG decremental response on stimulation motor nerves, repetitive compound muscle action potential response to single nerve stimuli	CHRND	CHRND, CHRNE	4	1	Johan den Dunnen
00153064	-	PubMed: Brownlow 2001	2-generation family, unaffected carrier parents	F	-	United Kingdom (Great Britain)	-	>6y	-	-	-	CMS	-	CHRND	CHRND	2	1	Johan den Dunnen
00153065	-	PubMed: Gomez 2002	-	M	-	United States	-	>15y	-	-	-	CMS	9y-loss ambulation	CHRND	CHRND	1	1	Johan den Dunnen
00153066	-	PubMed: Muller 2006	2-generation family, unaffected carrier parents and brother	M	-	Germany	-	>7y	-	-	-	CMS	post-partum difficulties feeding, sucking with frequent chokes; neonatal left-side eyelid ptosis, facial weakness, daytime-dependent abnormal fatigue, muscular hypotonia; motor development delayed	CHRND	CHRND	2	1	Angela Abicht
00153069	-	PubMed: Shen 2008	similarly affected sibling died 11m	F	-	United States	-	>20y	-	-	-	CMS	no anti-AChR antibodies	CHRND	CHRND	3	1	Johan den Dunnen
00153070	-	PubMed: Shen 2002	4-generation family, unaffected carrier parents/3 siblings	M	-	Saudi Arabia	-	-	-	-	-	CMS	-	CHRND	CHRND	2	1	Johan den Dunnen
00153071	-	PubMed: Chaouch 2011	-	-	-	Sweden	-	-	-	-	-	CMS	-	CHRND	CHRND	1	1	Angela Abicht
00153072	-	-	homozygous in 3 affected siblings	-	-	Germany	-	-	-	-	-	CMS	early onset severe CMS with contractures	CHRND	CHRND	2	3	Angela Abicht
00153073	-	PubMed: Engel 1996	-	-	-	United States	-	-	-	-	-	CMS	-	CHRND	CHRND	1	10	Johan den Dunnen
00153074	-	PubMed: Shen 2002	2 cousins 3-generation family, unaffected carrier parents/4 siblings	M	-	Saudi Arabia	-	-	-	-	-	CMS	-	CHRND	CHRND	2	1	Johan den Dunnen
00153075	-	PubMed: Shen 2002	2 cousins 3-generation family, unaffected carrier parents/4 siblings	F	-	Saudi Arabia	-	-	-	-	-	CMS	-	CHRND	CHRND	2	1	Johan den Dunnen
00153078	-	PubMed: Shen 2002, OMIM:var0002	3-families, 13 unaffected family members patients	-	-	Saudi Arabia	-	-	-	-	-	CMS	-	CHRND	CHRND	1	13	Johan den Dunnen
00153083	-	-	-	M	-	United States	white	-	-	-	-	CMS	bilateral ptosis, strabismus, hyperlordosis, foot drop.	CHRND	CHRND	1	1	Tom Winder
00153084	-	-	-	M	-	United States	-	-	-	-	-	CMS	profound muscle weakness; ventilator-dependent since birth; improves with Mestinin	CHRND	CHRND	1	1	Tom Winder
00153087	-	PubMed: Ohno 1995, OMIM:var0001	-	F	-	-	-	-	-	-	-	CMS	-	CHRNE	CHRNE	1	1	Johan den Dunnen
00153088	-	PubMed: Gomez 1995, OMIM:var0002	-	M	-	-	-	-	-	-	-	CMS	-	CHRNE	CHRNE	1	1	Johan den Dunnen
00153089	-	PubMed: Ohno 1996	-	F	-	-	-	-	-	-	-	CMS	-	CHRNE	CHRNE	1	1	Johan den Dunnen
00153090	-	PubMed: Ohno 1996	2-generation family, affected brother/sister, unaffected carrier parents	M	-	-	-	-	-	-	-	CMS	-	CHRNE	CHRNE	4	1	Johan den Dunnen
00153091	-	PubMed: Engel 1996	-	-	-	-	-	-	-	-	-	CMS	-	CHRNE	CHRNE	2	1	Johan den Dunnen
00153092	-	PubMed: Ohno 1997	3-generation family, 1 affected	F	-	-	-	-	-	-	-	CMS	-	CHRNE	CHRNE	2	1	Johan den Dunnen
00153093	-	PubMed: Milone 1998	-	F	-	-	-	-	-	-	-	CMS	-	CHRNE	CHRNE	2	1	Johan den Dunnen
00153094	-	PubMed: Croxen 1998	adopted	-	-	-	-	-	-	-	-	CMS	-	CHRNE	CHRNE	2	1	Johan den Dunnen
00153095	-	PubMed: Ohno 1998	-	F	yes	Turkey	-	-	-	-	-	CMS	-	CHRNE	CHRNE	2	1	Johan den Dunnen
00153096	-	PubMed: Ohno 1998	-	F	no	Turkey	-	-	-	-	-	CMS	-	CHRNE	CHRNE	2	1	Johan den Dunnen
00153097	-	PubMed: Ohno 1998	-	F	yes	Turkey	-	-	-	-	-	CMS	-	CHRNE	CHRNE	2	1	Johan den Dunnen
00153098	-	PubMed: Ohno 1998	-	M	yes	Turkey	-	-	-	-	-	CMS	-	CHRNE	CHRNE	2	1	Johan den Dunnen
00153099	-	PubMed: Nichols 1999	-	-	-	-	-	-	-	-	-	CMS	-	CHRNE	CHRNE	1	1	Johan den Dunnen
00153100	-	PubMed: Middleton 1999	2-generation family, 1 affected	M	yes	Turkey	-	-	-	-	-	CMS	-	CHRNE	CHRNE	2	1	Johan den Dunnen
00153101	-	PubMed: Middleton 1999	-	-	yes	Jordan	-	-	-	-	-	CMS	-	CHRNE	CHRNE	2	1	Johan den Dunnen
00153102	-	PubMed: Middleton 1999	2-generation family, 4 affecteds	-	yes	Jordan	-	-	-	-	-	CMS	-	CHRNE	CHRNE	2	4	Johan den Dunnen
00153103	-	PubMed: Middleton 1999	2-generation family, 1 affected	M	yes	Turkey	-	-	-	-	-	CMS	-	CHRNE	CHRNE	2	1	Johan den Dunnen
00153104	-	PubMed: Wang 2000	-	M	-	-	-	-	-	-	-	CMS	-	CHRNE	CHRNE	2	1	Johan den Dunnen
00153105	-	PubMed: Wang 2000	-	M	-	-	-	-	-	-	-	CMS	-	CHRNE	CHRNE	2	1	Johan den Dunnen
00153106	-	PubMed: Sieb 2000	-	F	-	-	white	-	-	-	-	CMS	-	CHRNE	CHRNE	2	1	Johan den Dunnen
00153107	-	PubMed: Sieb 1997	Brother and sister affected	-	-	Italy	-	-	-	-	-	CMS	-	CHRNE	CHRNE	2	2	Johan den Dunnen
00153108	-	PubMed: Slater 1997	-	M	yes	(United Kingdom (Great Britain))	-	-	-	-	-	CMS	-	CHRNE	CHRNE	2	1	Johan den Dunnen
00153109	-	PubMed: Slater 1997	-	M	yes	(United Kingdom (Great Britain))	-	-	-	-	-	CMS	-	CHRNE	CHRNE	2	1	Johan den Dunnen
00153110	-	PubMed: Croxen 2002	-	F	no	-	-	-	-	-	-	CMS	-	CHRNE	CHRNE	2	1	Johan den Dunnen
00153111	-	PubMed: Croxen 2002 a	-	F	yes	Bangladesh	-	-	-	-	-	CMS	-	CHRNE	CHRNE	2	1	Johan den Dunnen

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