All individuals with variants in gene CHRNA1

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
00035215	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected Slow-Channel syndrome, CMS, grandmother, mother and child affected	1	1	Andreas Laner
00035216	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected Slow-Channel syndrome, CMS, grandmother, mother and child affected	1	1	Andreas Laner
00035217	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035218	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035219	-	-	-	-	-	Germany	-	-	-	-	-	?	floppy infant	1	1	Andreas Laner
00152961	FamPat1	PubMed: Sine 1995	3-generation family, 5 affected (2F, 3M)	F;M	-	Germany	-	-	-	-	-	CMS	-	1	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	4	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	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	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	1	1	Johan den Dunnen
00152966	-	PubMed: Milone 1997	-	-	-	-	-	-	-	-	-	CMS	-	1	1	Johan den Dunnen
00152967	-	PubMed: Wang 1999	-	-	-	-	-	-	-	-	-	CMS	-	1	1	Johan den Dunnen
00152968	-	PubMed: Wang 1999	-	-	-	-	-	-	-	-	-	CMS	-	1	1	Johan den Dunnen
00152969	-	PubMed: Beeson 2003	-	-	-	-	-	-	-	-	-	CMS	-	1	1	Johan den Dunnen
00152970	-	PubMed: Shen 2006	-	-	-	-	-	-	-	-	-	CMS	-	1	1	Johan den Dunnen
00152971	-	PubMed: Michalk 2008	2-generation family, 2 affecteds	-	-	-	Africa	-	-	-	-	FADS	-	2	2	Johan den Dunnen
00152972	-	PubMed: Michalk 2008	4-generation family, 2 affected sibs	-	-	Pakistan	-	-	-	-	-	FADS	-	2	2	Johan den Dunnen
00152973	-	PubMed: Masuda 2008	-	-	-	-	-	-	-	-	-	CMS	-	1	1	Johan den Dunnen
00152974	-	-	-	-	-	-	-	-	-	-	-	CMS	-	1	1	Johan den Dunnen
00152975	-	-	-	-	-	-	-	-	-	-	-	CMS	-	1	1	Johan den Dunnen
00152976	-	-	-	-	-	-	-	-	-	-	-	CMS	-	1	1	Johan den Dunnen
00152977	-	-	-	-	-	-	-	-	-	-	-	CMS	-	1	1	Johan den Dunnen
00152978	-	-	-	-	-	-	-	-	-	-	-	CMS	-	1	1	Johan den Dunnen
00152979	-	-	-	-	-	-	-	-	-	-	-	CMS	-	1	1	Johan den Dunnen
00152980	-	-	-	-	-	-	-	-	-	-	-	CMS	-	1	1	Johan den Dunnen
00152981	-	-	-	-	-	-	-	-	-	-	-	CMS	-	1	1	Johan den Dunnen
00152982	-	PubMed: Giraud 2007	-	-	-	-	-	-	-	-	-	CMS	-	1	1	Johan den Dunnen
00152983	-	PubMed: Masuda 2008	-	-	-	-	-	-	-	-	-	CMS	-	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	1	1	Johan den Dunnen
00152985	-	PubMed: Ohno 1996	3-generation family, unaffected carrier parents/son	F	-	Germany	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00152986	-	PubMed: Ohno 1997	3-generation family, affected brother/sister	-	-	-	-	-	-	-	-	CMS	-	2	2	Johan den Dunnen
00152987	-	PubMed: Ohno 1997	2-generation family, 2 affected brothers	M	-	-	-	-	-	-	-	CMS	-	2	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	4	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	4	1	Johan den Dunnen
00152990	-	PubMed: Ohno 1999	unaffected carrier parents and brother	-	-	Turkey	-	-	-	-	-	-	-	2	3	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	1	2	Johan den Dunnen
00152992	-	-	-	-	-	Germany	-	-	-	-	-	CMS	phenotype compatible with SCCMS	1	1	Angela Abicht
00152993	-	-	2-generation family, 2 affected brothers; family history suggesting autosomal dominant inheritance	-	-	Germany	-	-	-	-	-	CMS	phenotype compatible with SCCMS	1	2	Angela Abicht
00152994	-	PubMed: Sine 1995	-	-	-	Germany	-	-	-	-	-	CMS	-	1	1	Johan den Dunnen
00152995	-	-	-	-	-	Germany	-	-	-	-	-	CMS	-	1	1	Angela Abicht
00152996	-	-	-	-	-	Germany	-	-	-	-	-	CMS	-	1	1	Angela Abicht
00152997	-	-	-	-	-	Germany	-	-	-	-	-	CMS	-	1	1	Angela Abicht
00152998	-	PubMed: Engel 1996	-	-	-	United States	-	-	-	-	-	-	-	1	27	Johan den Dunnen
00152999	-	PubMed: Engel 1996	-	-	-	United States	-	-	-	-	-	-	-	1	13	Johan den Dunnen
00153000	-	PubMed: Ohno 1997, PubMed: Ohno 1999	-	-	-	Turkey	-	-	-	-	-	-	-	1	37	Johan den Dunnen
00153001	-	PubMed: Ohno 1997, PubMed: Ohno 1999	-	-	-	Turkey	-	-	-	-	-	-	-	1	57	Johan den Dunnen
00153002	-	PubMed: Michalk 2008	4-generation family, unaffected carrier parents	-	yes	Pakistan	-	-	-	-	-	-	-	1	2	Johan den Dunnen
00153003	-	PubMed: Michalk 2008	2-generation family, unaffected carrier parents	-	yes	-	Africa	-	-	-	-	-	-	1	2	Johan den Dunnen
00153006	Pat3	PubMed: Croxen 1997	3-generation family, affected mother/daughter	F	-	-	-	-	-	-	-	CMS	-	1	2	Johan den Dunnen
00153009	Pat2	PubMed: Croxen 1997	3-generation family, 3 affected (F, 2M)	F;M	-	-	-	-	-	-	-	CMS	-	1	3	Johan den Dunnen
00153010	-	-	-	F	-	United States	-	-	-	-	-	CMS	global developmental delay, hypotonia, gait problems, weakness	1	1	Tom Winder
00163650	-	-	Fetus, TOP 24th GW	F	no	Germany	-	-	-	yes	none	arthrogryposis	Increased nuchal translucency (HP:0010880), Arthrogryposis multiplex congenita (HP:0002804), Fetal akinesia sequence (HP:0001989), Bilateral talipes equinovarus (HP:0001776), Polyhydramnios (HP:0001561), Hypertelorism (HP:0000316), Palpebral edema (HP:0100540), Micrognathia (HP:0000347)	3	1	Florian Erger
00305832	P128	PubMed: Yu 2017	analysis 180 LGMD patients	F	-	China	-	-	-	-	-	LGMD	moderate (MRC grade 3-4/5); lower limbs more severe than upper limbs; distal weakness; neck flexor weakness (HP:0003722); contractures; elevated serum CK (max. 330 IU/L); biopsy dystrophic; inflammation	1	1	Johan den Dunnen
00306128	60	-	-	F	-	China	-	-	-	-	-	CMS1A	-	1	1	Sha Hong
00399054	P116	PubMed: Gonzalez-Quereda 2020	patient	F	-	Spain	-	-	-	-	-	NMD	serum CK normal; muscle biopsy normal; generalized muscle weakness, reported consanguinity	1	1	Johan den Dunnen
00399091	P174	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	serum CK <200 U/L; muscle biopsy yype 1 fiber predominance; arthrogryposis	2	1	Johan den Dunnen
00442779	Pat151	PubMed: Westra 2019	-	M	-	-	-	-	-	-	-	NMD	Hypotonia, lethargy, motor delay, feeding difficulties, failure to thrive, possible centronuclear myopathy	1	1	Johan den Dunnen
00468753	-	PubMed: Retterer 2016	analysis proband (1/3040); possible combination of variants not reported	-	-	United States	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00468754	-	PubMed: Retterer 2016	analysis proband (1/3040); possible combination of variants not reported	-	-	United States	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00472920	Fam107477Pat17	PubMed: Molaei 2025	analysis 2009 neuromuscular disorder individuals; patient, no family history	F	no	Iran	-	-	-	-	-	CMS	Bilateral ptosis at age 3 months, exacerbated by fatigue; Nystagmus; Esotropia; Positive anti acetylcholine receptor Ab; Negative Anti-MuSK.	2	1	Johan den Dunnen
00473053	Fam11925Pat166	PubMed: Molaei 2025	analysis 2009 neuromuscular disorder individuals; patient, no family history	F	no	Iran	-	-	-	-	-	CMS	onset 18y with lower muscle weakness; Generalized muscle weakness due to the defect at the neuromuscular junction, proximal>distal; Lordosis; Hand tremor; Waddling gait; Mild respiratory insufficiency due to muscle weakness; Weakness aggravated by exertion; Positive Hx of SLE since 12y ago; Bone densitometry: osteoporotic at the levels of L1-L4 spine & femur neck; Muscle biopsy: suggestive of disuse, steroid myopathy; EMG-NCV: compatible with synaptic or post-synaptic neuromuscular junction disorder.	1	1	Johan den Dunnen
00473266	Fam200214Pat483	PubMed: Molaei 2025	analysis 2009 neuromuscular disorder individuals; patient, no family history	F	yes	Iran	-	-	-	-	-	CMS	sporadic case, onset 7y , motor development delay (standing and walking), upper and lower muscle weakness, neck muscle weakness, easy fatigability, dyspnea on exertion, lordosis, abdominal protrusion, walking abnormality, normal brain MRI, neuromuscular junction disease(congenital myasthenia) reported in EMG/NCV, MR and TR reported in echocardiography.	1	1	Johan den Dunnen
00473306	Fam202958Pat544	PubMed: Molaei 2025	analysis 2009 neuromuscular disorder individuals; patient, family history	F	no	Iran	-	-	-	-	-	CMS	Bilateral ptosis; Proximal lower & upper muscle weakness; Gowers sign; EMG-NCV: evidence of repetitive CMAP, congenital myasthenic syndrome, slow channel syndrome, or Endplate AChE deficiency.	1	1	Johan den Dunnen
00473366	Fam206991Pat640	PubMed: Molaei 2025	analysis 2009 neuromuscular disorder individuals; patient, no family history	F	yes	Iran	-	-	-	-	-	CMS	onset 6-month; Hypotonia; Delayed motor milestones; Bilateral ptosis; Strabismus; Mild to moderate fatigable limb muscle weakness, upper > lower; Bulbar muscle weakness; EMG-NCV: suggestive of myasthenic syndrome. Consanguineous parents.	1	1	Johan den Dunnen

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Global Variome shared LOVD

CHRNA1 (cholinergic receptor, nicotinic, alpha 1 ...))