Disease #05618 (NMD (neuromuscular disorder (NMD)))

Official abbreviation	NMD
Name	neuromuscular disorder (NMD)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	469
Phenotype entries for this disease	469
Associated with 0 genes	-
Associated tissues	-
Disease features	-
Remarks	-
Date created	2019-07-02 19:46:12 +02:00 (CEST)
Date last edited	N/A

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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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'

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469 entries on 5 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5		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
00248331	Fam14	PubMed: Todd 2015	-	M	-	-	-	-	-	-	-	NMD	see paper; ...	MTM1	MTM1	1	1	Johan den Dunnen
00248332	Fam6	PubMed: Todd 2015	-	-	-	-	-	-	-	-	-	NMD	see paper; …	RYR1	RYR1	2	1	Johan den Dunnen
00248333	Fam8	PubMed: Todd 2015	-	-	-	-	-	-	-	-	-	NMD	see paper; …	RYR1	RYR1	2	1	Johan den Dunnen
00248334	Fam13	PubMed: Todd 2015	-	-	-	-	-	-	-	-	-	NMD	see paper; …	RYR1	RYR1	2	1	Johan den Dunnen
00248335	Fam9	PubMed: Todd 2015	-	-	-	-	-	-	-	-	-	NMD	see paper; …	NEB	NEB	1	1	Johan den Dunnen
00248336	Fam10	PubMed: Todd 2015	-	-	-	-	-	-	-	-	-	NMD	see paper; …	CHRND	CHRND	2	1	Johan den Dunnen
00248337	Fam15	PubMed: Todd 2015	-	-	-	-	-	-	-	-	-	NMD	see paper; …	CHRNG	CHRNG	1	1	Johan den Dunnen
00248338	Fam1	PubMed: Todd 2015	-	-	-	-	-	-	-	-	-	NMD	see paper; …	MYH3	MYH3	1	1	Johan den Dunnen
00248339	Fam11	PubMed: Todd 2015	-	-	-	-	-	-	-	-	-	NMD	see paper; …	MYH3	MYH3	1	1	Johan den Dunnen
00396023	FM-01	PubMed: Ababneh 2021	4-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives	F;M	yes	Jordan	-	-	-	-	-	NMD	see paper; ...	-	MPV17	1	2	Johan den Dunnen
00396024	FM-02	PubMed: Ababneh 2021	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	yes	Jordan	-	-	-	-	-	NMD	see paper; ...	-	SGCB	1	1	Johan den Dunnen
00396025	FM-03	PubMed: Ababneh 2021	4-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives	F;M	yes	Jordan	-	-	-	-	-	NMD	see paper; ...	-	SLC25A46	1	2	Johan den Dunnen
00396026	FM-04	PubMed: Ababneh 2021	4-generation family, 3 affected brothers, unaffected heterozygous carrier parents/relatives	M	yes	Jordan	-	-	-	-	-	NMD	see paper; ...	-	DYSF	1	3	Johan den Dunnen
00396027	FM-05	PubMed: Ababneh 2021	4-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives	M	yes	Jordan	-	-	-	-	-	NMD	see paper; ...	-	SGCG	1	2	Johan den Dunnen
00396028	FM-06PatV1	PubMed: Ababneh 2021	4-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents/relatives	F;M	yes	Jordan	-	-	-	-	-	NMD	see paper; ...	-	DYSF	2	4	Johan den Dunnen
00396029	FM-07	PubMed: Ababneh 2021	5-generation family, affected sisters, unaffected heterozygous carrier parents/relatives	F	yes	Jordan	-	-	-	-	-	NMD	see paper; ...	-	DYSF	1	2	Johan den Dunnen
00396030	FM-08	PubMed: Ababneh 2021	4-generation family, affected 2 brothers/sister, unaffected heterozygous carrier parents/relatives	F;M	yes	Jordan	-	-	-	-	-	NMD	see paper; ...	-	SH3TC2	1	3	Johan den Dunnen
00396031	FM-06PatIV2/3	PubMed: Ababneh 2021	PatIV2/3	M	-	Jordan	-	-	-	-	-	NMD	see paper; ...	DYSF	DYSF	1	2	Johan den Dunnen
00398984	P1	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	serum CK <200 U/L; muscle biopsy central cores; polyhydramnios, severe neonatal hypotonia, limb-girdle weakness, facial hypomimia	-	RYR1	2	1	Johan den Dunnen
00398985	P3	PubMed: Gonzalez-Quereda 2020	patient	F	-	Spain	-	-	-	-	-	NMD	limb-girdle muscle weakness	-	MYOT	1	1	Johan den Dunnen
00398986	P4	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	serum CK 1844 U/L; quadriceps hypertrophy	-	DAG1	2	1	Johan den Dunnen
00398987	P5	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	serum CK <200 U/L; weakness and myasthenic crises	-	GFPT1	1	1	Johan den Dunnen
00398988	P6	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	distal contractures, skin biopsy compatible with bethlem myopathy	-	COL6A1	1	1	Johan den Dunnen
00398989	P7	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	serum CK normal; muscle biopsy yype 1 fiber predominance; plagiocephaly, microcephaly, hypotonia	-	DYNC1H1	1	1	Johan den Dunnen
00398990	P8	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	serum CK normal	-	CAPN3	1	1	Johan den Dunnen
00398991	P10	PubMed: Gonzalez-Quereda 2020	patient	F	-	Spain	-	-	-	-	-	NMD	-	-	TTN	1	1	Johan den Dunnen
00398992	P11	PubMed: Gonzalez-Quereda 2020	patient	F	-	Spain	-	-	-	-	-	NMD	-	-	LAMA2	1	1	Johan den Dunnen
00398993	P13	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	-	-	TTN	2	1	Johan den Dunnen
00398994	P15	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	muscle biopsy dystrophic pattern; axial and peripheral hypotonia	-	LAMA2	1	1	Johan den Dunnen
00398995	P16	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	serum CK 374 U/L; muscle biopsy myofibrillar myopathy; leg and joint pain	-	DES	1	1	Johan den Dunnen
00398996	P18	PubMed: Gonzalez-Quereda 2020	patient	F	-	Spain	-	-	-	-	-	NMD	serum CK 958 U/L; muscle biopsy yype 1 fiber predominance, atrophic fibers; paresis scapular waist with left predominanc	-	RYR1	1	1	Johan den Dunnen
00398997	P19	PubMed: Gonzalez-Quereda 2020	patient	F	-	Spain	-	-	-	-	-	NMD	-	-	TNPO3	1	1	Johan den Dunnen
00398998	P20	PubMed: Gonzalez-Quereda 2020	patient	F	-	Spain	-	-	-	-	-	NMD	serum CK 559 U/L; muscle biopsy fiber size variability, central nuclei and inflammatory ; posterior distal weakness, cardiomyopathy	-	TTN	1	1	Johan den Dunnen
00398999	P22	PubMed: Gonzalez-Quereda 2020	patient	F	-	Spain	-	-	-	-	-	NMD	serum CK 3661 U/L; muscle biopsy dystrophic pattern, IHC no DYSF; limb-girdle muscle weakness	-	DYSF	1	1	Johan den Dunnen
00399000	P24	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	serum CK 295 U/L; muscle biopsy myopathic changes, rimmed vacuoles; axial muscle atrophy, severe weakness lower limbs	-	CAPN3	1	1	Johan den Dunnen
00399001	P25	PubMed: Gonzalez-Quereda 2020	patient	F	-	Spain	-	-	-	-	-	NMD	raised serum CK 6-10 fold; muscle biopsy dystrophic pattern	-	DYSF	1	1	Johan den Dunnen
00399002	P26	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	serum CK 2217 U/L; muscle biopsy dystrophic pattern	-	TNPO3	1	1	Johan den Dunnen
00399003	P27	PubMed: Gonzalez-Quereda 2020	patient	F	-	Spain	-	-	-	-	-	NMD	muscle biopsy central cores	-	RYR1	1	1	Johan den Dunnen
00399004	P29	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	muscle biopsy internal nuclei 0.80 fibers; proximal muscle weakness in upper and lower limbs	-	COLQ	1	1	Johan den Dunnen
00399005	P31	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	serum CK >1300 U/L; muscle biopsy small protein aggregates; distal muscle weakness	-	DNAJB6	1	1	Johan den Dunnen
00399006	P32	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	serum CK 159 U/L; muscle biopsy unspecific myopathic changes; asymmetric distal weakness lower limbs, myalgias, anterior tibial weakness	-	TTN	2	1	Johan den Dunnen
00399007	P33	PubMed: Gonzalez-Quereda 2020	patient	F	-	Spain	-	-	-	-	-	NMD	serum CK 112 U/L; limb-girdle muscle weakness	-	GFPT1	1	1	Johan den Dunnen
00399008	P34	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	serum CK 122 U/L; hypotonia, axial muscle weakness weakness	-	RYR1	1	1	Johan den Dunnen
00399009	P35	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	serum CK <200 U/L; muscle biopsy central cores; hypotonia	-	MTM1	1	1	Johan den Dunnen
00399010	P36	PubMed: Gonzalez-Quereda 2020	patient	F	-	Spain	-	-	-	-	-	NMD	serum CK 270 U/L; muscle biopsy dystrophic changes, COLVI reduction in muscle and skin biopsy ; hypotonia, congenital torticollis, limb- girdle weakness, multiple retractions	-	COL6A2	1	1	Johan den Dunnen
00399011	P37	PubMed: Gonzalez-Quereda 2020	patient	F	-	Spain	-	-	-	-	-	NMD	muscle biopsy vacuoles; limb-girdle muscle weakness	-	GFPT1	1	1	Johan den Dunnen
00399012	P38	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	-	-	RYR1	1	1	Johan den Dunnen
00399013	P39	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	serum CK 749 U/L; reduced collagen vi expression in skin biopsy	-	COL6A1	1	1	Johan den Dunnen
00399014	P42	PubMed: Gonzalez-Quereda 2020	patient	F	-	Spain	-	-	-	-	-	NMD	serum CK 1862 U/L; muscle biopsy dystrophic pattern, macrophage infiltration ; limb-girdle muscle weakness	-	FKRP	2	1	Johan den Dunnen
00399015	P43	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	muscle biopsy dystrophic pattern, rimmed vacuoles, protein aggregates	-	TTN	2	1	Johan den Dunnen
00399016	P44	PubMed: Gonzalez-Quereda 2020	patient	F	-	Spain	-	-	-	-	-	NMD	limb-girdle muscle weakness, limb contractures	-	COL6A1	1	1	Johan den Dunnen
00399017	P45	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	distal muscle weakness, pes cavus	-	AARS	1	1	Johan den Dunnen
00399018	P47	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	serum CK 103 U/L; muscle biopsy myopathic changes with central nuclei	-	RYR1	2	1	Johan den Dunnen
00399019	P48	PubMed: Gonzalez-Quereda 2020	patient	F	-	Spain	-	-	-	-	-	NMD	serum CK normal; muscle biopsy multiminicores	-	RYR1	2	1	Johan den Dunnen
00399020	P50	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	hypotonia, diplegic facies, palpebral ptosis, limb-girdle weakness	-	CHRNE	1	1	Johan den Dunnen
00399021	P53	PubMed: Gonzalez-Quereda 2020	patient	F	-	Spain	-	-	-	-	-	NMD	muscle biopsy congenital fiber type disproportion	-	TPM2	1	1	Johan den Dunnen
00399022	P55	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	raised serum CK 2 fold; muscle biopsy isolated fibers with rimmed vacuoles	-	VCP	1	1	Johan den Dunnen
00399023	P64	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	serum CK 1148 U/L; muscle biopsy rimmed vacuoles; hereditary inclusion body myositis	-	TTN	1	1	Johan den Dunnen
00399024	P65	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	serum CK 2286 U/L; muscle biopsy dystrophic pattern, partial merosin deficiency	-	LAMA2	1	1	Johan den Dunnen
00399025	P66	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	serum CK 91 U/L; muscle biopsy internal nuclei; cardiomyopathy, axial weakness	-	TTN	1	1	Johan den Dunnen
00399026	P68	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	raised serum CK 20 fold; muscle biopsy dystrophic pattern; distal and asymmetric limb-girdle muscle dystrophy	-	TTN	1	1	Johan den Dunnen
00399027	P69	PubMed: Gonzalez-Quereda 2020	patient	F	-	Spain	-	-	-	-	-	NMD	serum CK 456 U/L; muscle biopsy myopathic changes; distal muscle atrophy, fat degeneration of tibialis anterior	-	GNE	1	1	Johan den Dunnen
00399028	P71	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	raised serum CK 3 fold; muscle biopsy myopathic changes; asymmetric calf atrophy	-	RYR1	1	1	Johan den Dunnen
00399029	P72	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	serum CK normal; muscle biopsy internal nuclei	-	DNM2	1	1	Johan den Dunnen
00399030	P76	PubMed: Gonzalez-Quereda 2020	patient	F	-	Spain	-	-	-	-	-	NMD	serum CK normal; muscle biopsy myopathic changes, predominance type 1 fibers	-	TTN	2	1	Johan den Dunnen
00399031	P79	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	serum CK 173 U/L	-	GARS	1	1	Johan den Dunnen
00399032	P80	PubMed: Gonzalez-Quereda 2020	patient	F	-	Spain	-	-	-	-	-	NMD	serum CK 781 U/L	-	COL6A3	1	1	Johan den Dunnen
00399033	P82	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	dry skin with hyperkeratosis, joint hyperlaxity, bilateral and symmetric atrophy, atrophy with fatty infiltration muscle groups both shoulder girdles	-	COL6A1	1	1	Johan den Dunnen
00399034	P84	PubMed: Gonzalez-Quereda 2020	patient	F	-	Spain	-	-	-	-	-	NMD	-	-	KLHL40	2	1	Johan den Dunnen
00399035	P88	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	-	-	SEPN1	2	1	Johan den Dunnen
00399036	P89	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	serum CK normal; muscle biopsy myopathic changes; hypomimia, severe scoliosis, respiratory insufficiency, axial hypotonia	-	ACTA1	1	1	Johan den Dunnen
00399037	P93	PubMed: Gonzalez-Quereda 2020	patient	F	-	Spain	-	-	-	-	-	NMD	serum CK normal; muscle biopsy congenital fiber type disproportion; scoliosis, myopathic facies, generalized hypotonia	-	TPM3	1	1	Johan den Dunnen
00399038	P94	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	muscle biopsy central cores	-	RYR1	1	1	Johan den Dunnen
00399039	P95	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	serum CK 502 U/L; muscle biopsy myopathic changes; distal atrophy lower limb	-	TTN	1	1	Johan den Dunnen
00399040	P97	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	serum CK <200 U/L; muscle biopsy congenital fiber type disproportion; hypotonia	-	ACTA1	1	1	Johan den Dunnen
00399041	P98	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	muscle biopsy reduced dystrophin	-	DMD	1	1	Johan den Dunnen
00399042	P99	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	serum CK normal; muscle biopsy internal nuclei	-	DNM2	1	1	Johan den Dunnen
00399043	P100	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	serum CK normal; muscle biopsy rimmed vacuoles, protein aggregates ; muscle weakness	-	MYOT	1	1	Johan den Dunnen
00399044	P103	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	serum CK normal; muscle biopsy neurogenic pattern	-	PLEKHG5	2	1	Johan den Dunnen
00399045	P104	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	raised serum CK 2 fold; muscle biopsy yype 1 fiber predominance	-	COL6A3	1	1	Johan den Dunnen
00399046	P105	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	serum CK 994 U/L; muscle biopsy myopathic changes, rimmed vacuoles; selective atrophy of right radial carpal extensors and left tibialis anterior	-	TTN	1	1	Johan den Dunnen
00399047	P106	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	muscle biopsy predominance type 1 fibers, ring fibers	-	TTN	1	1	Johan den Dunnen
00399048	P107	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	-	-	NEB	2	1	Johan den Dunnen
00399049	P108	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	serum CK 87 U/L; muscle biopsy central cores; exercise intolerance	-	RYR1	1	1	Johan den Dunnen
00399050	P109	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	serum CK normal; muscle biopsy internal nuclei	-	RYR1	1	1	Johan den Dunnen
00399051	P110	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	-	-	DES	1	1	Johan den Dunnen
00399052	P111	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	raised serum CK 3 fold; muscle biopsy normal; limb-girdle muscle weakness, hyperCKemia	-	TTN	1	1	Johan den Dunnen
00399053	P112	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	fatigability	-	RAPSN	2	1	Johan den Dunnen
00399054	P116	PubMed: Gonzalez-Quereda 2020	patient	F	-	Spain	-	-	-	-	-	NMD	serum CK normal; muscle biopsy normal; generalized muscle weakness, reported consanguinity	-	CHRNA1	1	1	Johan den Dunnen
00399055	P117	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	muscle biopsy cores and cytoplasmic bodies; hyperckemia, ptosis, arched palate	-	RYR1	1	1	Johan den Dunnen
00399056	P118	PubMed: Gonzalez-Quereda 2020	patient	F	-	Spain	-	-	-	-	-	NMD	serum CK <200 U/L; muscle biopsy congenital fiber type disproportion; hypotonia	-	DOK7	2	1	Johan den Dunnen
00399057	P120	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	raised serum CK 3 fold; muscle biopsy myopathic changes	-	TTN	1	1	Johan den Dunnen
00399058	P123	PubMed: Gonzalez-Quereda 2020	patient	F	-	Spain	-	-	-	-	-	NMD	serum CK <200 U/L; muscle biopsy fiber size variability; fatigability	-	COLQ	2	1	Johan den Dunnen
00399059	P125	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	serum CK 78 U/L; muscle biopsy myopathic changes; hypotonia, muscle weakness	-	DNM2	1	1	Johan den Dunnen
00399060	P126	PubMed: Gonzalez-Quereda 2020	patient	F	-	Spain	-	-	-	-	-	NMD	-	-	CHRNE	1	1	Johan den Dunnen
00399061	P130	PubMed: Gonzalez-Quereda 2020	patient	F	-	Spain	-	-	-	-	-	NMD	muscle biopsy dystrophic pattern; limb-girdle muscle weakness	-	CAPN3	2	1	Johan den Dunnen
00399062	P131	PubMed: Gonzalez-Quereda 2020	patient	F	-	Spain	-	-	-	-	-	NMD	serum CK 145 U/L; muscle biopsy normal; significant pelvic and scapular weakness	-	TTN	2	1	Johan den Dunnen
00399063	P133	PubMed: Gonzalez-Quereda 2020	patient	F	-	Spain	-	-	-	-	-	NMD	-	-	MYOT	1	1	Johan den Dunnen
00399064	P135	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	serum CK 350 U/L; hypotonia, COLVI reduction skin biopsy	-	COL6A1	1	1	Johan den Dunnen
00399065	P136	PubMed: Gonzalez-Quereda 2020	patient	F	-	Spain	-	-	-	-	-	NMD	serum CK 76 U/L; muscle biopsy central cores; hypotonia	-	RYR1	1	1	Johan den Dunnen

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Global Variome shared LOVD

SPTB (spectrin, beta, erythrocytic)