Disease #05121 (MD (dystrophy, muscular (MD)))

Official abbreviation	MD
Name	dystrophy, muscular (MD)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	4590
Phenotype entries for this disease	2661
Associated with 1 gene	HMGCR
Associated tissues	-
Disease features	-
Remarks	-
Date created	2016-01-24 01:27:29 +01:00 (CET)
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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\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
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^	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'
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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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4590 entries on 46 pages. Showing entries 1 - 100.

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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
00002999	-	PubMed: Neveling 2013	-	-	-	-	-	-	-	-	-	?, MD	congenital discant severe hearing loss	USH2A	USH2A	2	1	Marcel Nelen
00003000	-	PubMed: Neveling 2013	-	-	-	-	-	-	-	-	-	?, MD	bowlshaped hearing loss	CDH23	CDH23, MYO6	3	1	Marcel Nelen
00005988	-	-	-	-	?	Netherlands	-	-	-	-	-	cancer, breast, MD	-	BRCA1, BRCA2	BRCA1	1	1	Hans Gille
00005989	-	-	-	-	?	Netherlands	-	-	-	-	-	cancer, breast, MD	-	BRCA1, BRCA2	BRCA1	1	1	Rob B. van der Luijt
00005990	-	-	-	-	?	Belgium	-	-	-	-	-	cancer, breast, MD	-	BRCA1, BRCA2	BRCA1	1	1	Genevieve Michils
00005991	-	-	-	-	?	Belgium	-	-	-	-	-	cancer, breast, MD	-	BRCA1, BRCA2	BRCA1	1	1	Genevieve Michils
00005992	-	-	-	-	?	Belgium	-	-	-	-	-	cancer, breast, MD	-	BRCA1, BRCA2	BRCA1	1	1	Genevieve Michils
00005993	-	-	-	-	?	Belgium	-	-	-	-	-	cancer, breast, MD	-	BRCA1, BRCA2	BRCA1	1	1	Genevieve Michils
00005995	-	-	-	-	?	Belgium	-	-	-	-	-	cancer, breast, MD	-	BRCA1, BRCA2	BRCA1	1	1	Genevieve Michils
00005997	-	-	-	-	?	Belgium	-	-	-	-	-	cancer, breast, MD	-	BRCA1, BRCA2	BRCA1	1	1	Genevieve Michils
00005998	-	-	-	-	?	Belgium	-	-	-	-	-	cancer, breast, MD	-	BRCA1, BRCA2	BRCA1	1	1	Genevieve Michils
00005999	-	-	-	-	?	Belgium	-	-	-	-	-	cancer, breast, MD	-	BRCA1, BRCA2	BRCA1	1	1	Genevieve Michils
00006000	-	-	-	-	?	Belgium	-	-	-	-	-	cancer, breast, MD	-	BRCA1, BRCA2	BRCA1	1	1	Katrien Storm
00007495	-	-	-	-	?	Netherlands	-	-	-	-	-	cancer, breast, MD	-	BRCA1, BRCA2	BRCA2	1	1	Marjolijn JL Ligtenberg
00035607	-	-	-	-	-	Germany	-	-	-	-	-	MD	suspected muscular dystrophy	DMD	DMD	1	1	Andreas Laner
00035613	-	-	-	-	-	Germany	-	-	-	-	-	MD	myopathy vague, suspected muscular dystrophy, loss of ambulatory ability since the seventh year of life, free walking at 2.5y, hypotonia	DMD	DMD	1	1	Andreas Laner
00036040	-	-	-	-	-	Germany	-	-	-	-	-	MD	-	LAMA2	LAMA2	1	1	Andreas Laner
00036041	77186	-	-	M	?	Libya	-	-	-	-	-	MD, MDC, MEOAL;MMDS8	, Muscular Dystrophy, no further information	LAMA2	LAMA2	2	1	Andreas Laner
00036047	-	-	-	-	-	Germany	-	-	-	-	-	MD	-	LAMA2	LAMA2	1	1	Andreas Laner
00057848	-	-	-	F	-	-	-	-	-	-	-	MD	-	B3GALNT2	B3GALNT2	2	1	Johan den Dunnen
00058417	-	PubMed: Vasli 2012	-	-	-	-	-	-	-	-	-	MD	-	TTN	TTN	2	1	Claire Chauveau
00074351	-	PubMed: Baranzini 1997	12 BMD/DMD patients and 15 control males	M	no	Argentina	-	-	-	-	-	MD	12 BMD/DMD patients, 15 controls	DMD	DMD	1	27	Johan den Dunnen
00074352	-	PubMed: Baranzini 1997	12 BMD/DMD patients and 15 control males	M	no	Argentina	-	-	-	-	-	MD	12 BMD/DMD patients, 15 controls	DMD	DMD	1	27	Johan den Dunnen
00074353	-	PubMed: Baranzini 1997	12 BMD/DMD patients and 15 control males	M	no	Argentina	-	-	-	-	-	MD	12 BMD/DMD patients, 15 controls	DMD	DMD	1	27	Johan den Dunnen
00074354	-	PubMed: Baranzini 1997	12 BMD/DMD patients and 15 control males	M	no	Argentina	-	-	-	-	-	MD	12 BMD/DMD patients, 15 controls	DMD	DMD	1	27	Johan den Dunnen
00074355	-	PubMed: Baranzini 1997	-	M	no	Argentina	-	-	-	-	-	MD	12 BMD/DMD patients	DMD	DMD	1	12	Johan den Dunnen
00074356	-	PubMed: Baranzini 1997	-	M	no	Argentina	-	-	-	-	-	MD	12 BMD/DMD patients	DMD	DMD	1	12	Johan den Dunnen
00074357	-	PubMed: Baranzini 1997	-	M	no	Argentina	-	-	-	-	-	MD	12 BMD/DMD patients	DMD	DMD	1	12	Johan den Dunnen
00074358	-	PubMed: Baranzini 1997	-	M	no	Argentina	-	-	-	-	-	MD	12 BMD/DMD patients	DMD	DMD	1	12	Johan den Dunnen
00074359	-	PubMed: Baranzini 1997	-	M	no	Argentina	-	-	-	-	-	MD	12 BMD/DMD patients	DMD	DMD	1	12	Johan den Dunnen
00074360	-	PubMed: Baranzini 1997	-	M	no	Argentina	-	-	-	-	-	MD	12 BMD/DMD patients	DMD	DMD	1	12	Johan den Dunnen
00074361	-	PubMed: Baranzini 1997	-	M	no	Argentina	-	-	-	-	-	MD	12 BMD/DMD patients	DMD	DMD	1	12	Johan den Dunnen
00074387	#323	PubMed: Luce 2018	adopted, dizygotic twin sister without symptoms	F	no	Argentina	-	-	-	-	-	MD	symptomatic female; muscular biopsy compatible with dystrophinopathy; no mental retardation; raised CPK 15.000 UI/L	DMD	DMD	1	1	Florencia Giliberto
00078786	-	PubMed: Deschauer 2011	-	F	-	Germany	-	-	-	-	-	MD	raised CPK (HP:0003236) 30x; >70y walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078787	-	PubMed: Sarkozy 2012	-	M	-	Germany	-	-	-	-	-	MD	raised CPK (HP:0003236) 241-2603; >52y walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078788	-	PubMed: Sarkozy 2012	brother of 21739273-Pat3b	M	-	Germany	-	-	-	-	-	MD	raised CPK (HP:0003236) 1500-6100; >56y walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078789	-	PubMed: Sarkozy 2012	sister of 21739273-Pat3a	F	-	Germany	-	-	-	-	-	MD	raised CPK (HP:0003236) 2280; >52y walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078790	-	PubMed: Sarkozy 2012	-	M	-	Germany	-	-	-	-	-	MD	raised CPK (HP:0003236) 5000; >35y walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078860	-	PubMed: Schessl 2012	consanguineous grandparents	M	yes	Afghanistan	-	-	-	-	-	MD	adult onset weakness proximal muscle, atrophy shoulder girdle/lower limbs, Trendelenbur/ Gower signs; EMG myopathy; raised CPK (HP:0003236) 3184 U/l; >35y walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078861	-	PubMed: Schessl 2012	-	M	-	Germany	-	-	-	-	-	MD	adult onset, progressive, weakness and atrophy hamstrings and lower limbs; raised CPK (HP:0003236) 9809 U/l; >49y walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078863	-	PubMed: Schessl 2012	sister with similar symptoms	F	-	Germany	-	-	-	-	-	MD	adult onset, MRI muscle asymmetric fatty degeneration biceps femoris; raised CPK (HP:0003236) 9000 U/l; >54y walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00094021	-	-	-	F	no	Taiwan	Han Chinese	>51y	-	-	-	MD	-	DNAJB6	DNAJB6	1	1	Yi-Chung Lee
00102163	11287370-Pat1	PubMed: Di Blasi 2001	2-generation family, affected brother/sister, unaffected carrier parents and sister	M	-	Italy	-	>39y	-	-	-	MD	dystrophy, muscular; 32y-difficulty getting up from floor/climbing stairs/holding heavy weights, severe contractures neck/arm muscles preventing head rotation/bending39y-mild limb-girdle weakness; CPK: 4x	LAMA2	LAMA2	2	4	Johan den Dunnen
00102209	18700894-Pat11	PubMed: Oliveira 2008	-	M	-	Portugal	-	>24y	-	-	-	MD	slowly progressive spastic paraparesis; no contractures; no seizures; MRI brain white matter changes, no gyral abnormalities; CPK: 838; slight mental retardation; spastic gait	LAMA2	LAMA2	2	1	Rosário dos Santos
00102326	?	PubMed: Rajakulendran 2011	-	F	-	-	-	-	-	-	-	MD	dystrophy, muscular, congenital	LAMA2	LAMA2	2	2	Patricio Brand
00102341	11287370-Pat2	PubMed: Di Blasi 2001	2-generation family, affected brother/sister, unaffected carrier parents and sister	F	-	Italy	-	>36y	-	-	-	MD	dystrophy, muscular; difficulty walking, congenital bilateral hip dislocation; CPK: 2x	LAMA2	LAMA2	2	4	Johan den Dunnen
00102517	21896784-Pat45	PubMed: Piluso 2011	2-generation family, 2 affected sisters	-	no	-	-	-	-	-	-	MD	dystrophy, muscular; muscular dystrophy Becker/limb-girdle like	LAMA2	LAMA2	1	1	Johan den Dunnen
00102718	-	PubMed: Oliveira 2018, Journal: Oliveira 2018	-	M	-	Portugal	-	-	-	-	-	MD, MDC	-	LAMA2	LAMA2	2	1	Jorge Oliveira
00102724	-	PubMed: Oliveira 2018, Journal: Oliveira 2018	1-generation family, 2 affecteds (1M, 1F)	F	-	Portugal	-	-	-	-	-	MD	dystrophy, muscular, limb-girdle; gait mild valgus posture both feet, reflexes sluggish, no muscle pseudohypertrophy/wasting; muscle biopsy overtly dystrophic; 7y-Gowersí manoeuvre; CPK: 4025-4621 UI/L; s7m, w23m	LAMA2	LAMA2	2	2	Jorge Oliveira
00102725	-	PubMed: Oliveira 2018, Journal: Oliveira 2018	1-generation family, 2 affecteds (1M, 1F)	M	-	Portugal	-	-	-	-	-	MD	running difficulties since his thirties, progressive lower limb weakness. • Brain MRI: white matter changes. • Noticed upper limb weakness 10yrs later. • Paresis (4/5 grade) proximal in upper limbs, distal and proximal in lower limbs. • Paresis of trunk and neck flexion (grade 2 and 4+, respectively). • Lordosis and myopathic gait with slight steppage.	LAMA2	LAMA2	2	1	Jorge Oliveira
00102726	-	PubMed: Oliveira 2018, Journal: Oliveira 2018	-	F	-	Portugal	-	-	-	-	-	MD, MDC	•Gait impairment since 1.5yrs of age. •Unable to stand up or walk unaided, in the last 2 yrs. •Brain MRI: white matter changes. •Tetraparesis grade 4+/5 in upper limbs, grade 4-/5 in lower limbs. •Mild intellectual disability. •Partial epilepsy with secondary generalization, due to CNS structural defects (MRI below), with frequent seizures, refractory to treatment.	LAMA2	LAMA2	2	1	Jorge Oliveira
00102734	-	PubMed: Oliveira 2018, Journal: Oliveira 2018	-	M	?	Portugal	-	-	-	-	-	MD	gait impairment since youth, stable throughout life. •Initially investigated with the suspicion of LGMD, but without specific etiology. •Proximal tetraparesis(grade 4/5, 4-/5 in lower limbs). •Currently unable to walk independently (wheelchair-bound). •Moderate intellectual disability (dementia over the last 2 yrs). •Brain MRI: white matter changes.	LAMA2	LAMA2	1	1	Jorge Oliveira
00103126	24534542-Pat1	PubMed: Marques 2014	-	M	-	Portugal	-	>55y	-	-	-	MD	Delayed gross motor development (HP:0002194), proximal muscle weakness (HP:0003701), difficulty running (HP:0009046), frequent falls (HP:0002359), gowers sign (HP:0003391), spinal rigidity (HP:0003306), hyperintensity of cerebral white matter on MRI (HP:0030890), EMG: myopathic abnormalities (HP:0003458), abnormal cardiac ventricular function (HP:0030872), muscular dystrophy (HP:0003560)	LAMA2	LAMA2	2	1	Jorge Oliveira
00103207	-	PubMed: Oliveira 2018, Journal: Oliveira 2018	-	F	-	Portugal	-	-	-	-	-	MD, MDC	Motor delay (HP:0001270), Hyperlordosis (HP:0003307), Elevated serum creatine phosphokinase (HP:0003236), Intellectual disability (HP:0001249)	-	LAMA2	2	1	Jorge Oliveira
00103245	24327385-Pat, 1456743-III-3	PubMed: van Engelen 1992, PubMed: Kevelam 2014	4-generation family, 3 affected sibs	F	-	-	-	>29y	-	-	-	MD	Elevated serum creatine phosphokinase (HP:0003236), muscular dystrophy (HP:0003560), hyperintensity of cerebral white matter on MRI (HP:0030890), generalized tonic-clonic seizures (HP:0007334) (22y), difficulty walking (HP:0002355), distal muscle weakness (HP:0002460), spastic gait (HP:0002064), inability to walk (HP:0002540) (28y), bilateral myopia (HP:0000545). Slightly increased calf bulk, and bilateral pes cavus without muscle wasting. Bilateral predominantly right-sided pyramidal and cerebellar syndrome. Cognitive functions were normal.	-	LAMA2	2	3	Jorge Oliveira
00103324	10852549-Pat	PubMed: Di Blasi 2000	-	M	-	-	-	>29y	-	-	-	MD	Motor delay (HP:0001270), decreased patellar reflex (HP:0011808), pes cavus (HP:0001761), wasting of thigh muscle (HP:0008956), calf muscle hypertrophy (HP:0008981), elevated serum creatine phosphokinase (HP:0003236),hyperintensity of cerebral white matter on MRI (HP:0030890), muscular dystrophy (HP:0003560), rimmed vacuoles (HP:0003805)	LAMA2	LAMA2	2	1	Jorge Oliveira
00103325	27858741-Pat1	PubMed: Nelson 2015	-	M	no	Turkey	-	>38y	-	-	-	MD	Elevated serum creatine phosphokinase (HP:0003236), proximal muscle weakness in lower limbs (HP:0008994) and upper limbs (HP:0008997), joint contracture (HP:0001371), calf muscle hypertrophy (HP:0008981), dilated cardiomyopathy (HP:0001644)	-	LAMA2	1	1	Jorge Oliveira
00103326	27858741-Pat2	PubMed: Nelson 2015	-	M	yes	France	Algerian parents	>32y	-	-	-	MD	Elevated serum creatine phosphokinase (HP:0003236), proximal muscle weakness in lower limbs (HP:0008994) and upper limbs (HP:0008997), axial muscle weakness (HP:0003327), joint contracture (HP:0001371), polymicrogyria (HP:0002126), lissencephaly (HP:0001339), follicular hyperkeratosis (HP:0007502)	LAMA2	LAMA2	1	1	Jorge Oliveira
00103949	-	PubMed: Oliveira 2018, Journal: Oliveira 2018	-	-	?	Portugal	-	-	-	-	-	MD	-	LAMA2	LAMA2	1	1	Jorge Oliveira
00103950	-	PubMed: Oliveira 2018, Journal: Oliveira 2018	-	-	yes	Portugal	-	-	-	-	-	MD	-	LAMA2	LAMA2	1	1	Jorge Oliveira
00103951	-	PubMed: Oliveira 2018, Journal: Oliveira 2018	-	-	?	Portugal	-	-	-	-	-	MD	-	LAMA2	LAMA2	1	1	Jorge Oliveira
00103952	-	PubMed: Oliveira 2018, Journal: Oliveira 2018	-	-	-	Portugal	-	-	-	-	-	MD	-	LAMA2	LAMA2	2	1	Jorge Oliveira
00103969	-	PubMed: Oliveira 2018, Journal: Oliveira 2018	-	-	-	Portugal	-	-	-	-	-	MD	-	LAMA2	LAMA2	2	1	Jorge Oliveira
00103970	-	PubMed: Oliveira 2018, Journal: Oliveira 2018	-	-	-	Portugal	-	-	-	-	-	MD	-	LAMA2	LAMA2	2	1	Jorge Oliveira
00103971	-	PubMed: Oliveira 2018, Journal: Oliveira 2018	-	-	-	Portugal	-	-	-	-	-	MD	-	LAMA2	LAMA2	2	1	Jorge Oliveira
00103972	-	PubMed: Oliveira 2018, Journal: Oliveira 2018	-	M	-	Portugal	-	>25y	-	-	-	MD, MDC	-	LAMA2	LAMA2	3	1	Jorge Oliveira
00103973	28445022-Pat	PubMed: Kim 2017	1-generation family, 2 affecteds (2F)	F	-	(Korea, South (Republic))	-	>04y	-	-	-	MD	Elevated serum creatine phosphokinase (HP:0003236), hyperintensity of cerebral white matter on MRI (HP:0030890), muscular dystrophy (HP:0003560)	-	LAMA2	2	1	Jorge Oliveira
00119128	26322222-Pat	PubMed: Liang 2015, Journal: Liang 2015	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	no	Taiwan	Han Chinese	-	-	-	-	MD	see paper; ..., congenital muscular dystrophy, fatty liver, infantile-onset cataract	TRAPPC11	TRAPPC11	2	1	Johan den Dunnen
00131941	-	PubMed: Oliveira 2018, Journal: Oliveira 2018	-	F	-	Portugal	-	>33y	-	-	-	MD	-	LAMA2	LAMA2	2	1	Jorge Oliveira
00132014	-	-	-	F	-	United States	-	-	-	-	-	MD	Muscular dystrophy (HP:0003560)	LAMA2	LAMA2	1	1	Angela Gruber
00132016	-	-	-	M	-	United States	-	-	-	-	-	MD, MDC	Muscle weakness (HP:0001324)	LAMA2	LAMA2	1	1	Angela Gruber
00133518	-	PubMed: Barresi 2000, OMIM:var0003	with DCM, paternal cousin of SGCB_00003aa	M	no	Italy	-	27y	-	-	-	MD	26y-inable to walk (HP:0002540); 2540 elevated CPK (HP:0003236)	SGCA	SGCB	1	1	Johan den Dunnen
00133525	-	PubMed: Duggan	-	-	-	-	United States/Italy	-	-	-	-	MD	>13y-inable to walk (HP:0002540)	SGCA	SGCB	1	1	Johan den Dunnen
00133534	-	PubMed: Duggan	second degree cousins of 16934466-IV.1 and mother III.4, 4 generation family; 31 in Duggan 1997	F	-	Italy	-	>21y	-	-	-	MD	severe; 10y-inable to walk (HP:0002540)	SGCA	SGCB	2	1	Johan den Dunnen
00133535	-	PubMed: Fanin 2003, OMIM:var0003	-	F	-	Italy	-	>27y	-	-	-	MD	10y-inable to walk (HP:0002540)	SGCA	SGCB	2	1	Johan den Dunnen
00133536	-	PubMed: Barresi 2000, OMIM:var0003	paternal cousin of SGCB_00003#	F	-	Italy	-	>28y	-	-	-	MD	no CMD; 15y-inable to walk (HP:0002540)	SGCA	SGCB	2	1	Johan den Dunnen
00133541	-	Rivas 2004, Acta Myologica XXIII: 159	-	F	-	Spain	-	-	-	-	-	MD	severe; 15x elevated CPK (HP:0003236)	SGCA	SGCB	2	1	Johan den Dunnen
00133543	-	PubMed: Duggan	-	-	-	-	United States/Italy	-	-	-	-	MD	11y-inable to walk (HP:0002540)	SGCA	SGCB	2	1	Johan den Dunnen
00133545	-	PubMed: Duggan	-	-	-	-	United States/Italy	-	-	-	-	MD	15y-inable to walk (HP:0002540)	SGCA	SGCB	2	1	Johan den Dunnen
00133546	Pat6	PubMed: Ginjaar 2000	-	F	?	Netherlands	-	>11y	-	-	-	MD	>11y-inable to walk (HP:0002540); 60x elevated CPK (HP:0003236)	SGCA	SGCB	1	1	Ieke Ginjaar
00133547	Pat24	PubMed: Ginjaar 2000	-	F	-	Netherlands	-	>47y	-	-	-	MD	44y-inable to walk (HP:0002540); 24x elevated CPK (HP:0003236)	SGCA	SGCB	1	1	Ieke Ginjaar
00133548	-	Ginjaar WMS2005	-	-	no	Netherlands	-	-	-	-	-	MD	-	SGCA	SGCB	2	1	Ieke Ginjaar
00133549	-	PubMed: Duggan	-	-	-	-	United States/Italy	-	-	-	-	MD	14y-inable to walk (HP:0002540)	SGCA	SGCB	2	1	Johan den Dunnen
00133550	-	PubMed: Fanin 2003	-	M	-	Italy	-	>20y	-	-	-	MD	14y6m-inable to walk (HP:0002540)	SGCA	SGCB	2	1	Johan den Dunnen
00133553	-	PubMed: dos Santos	parents carrier	M	-	Portugal	-	-	-	-	-	MD	-	SGCA	SGCB	2	3	Johan den Dunnen
00133565	-	PubMed: Kaindl 2005	East Anatolia, 6 affecteds	-	-	Turkey	-	21y-35y	-	-	-	MD	hyperlaxity and joint contractures, chest pain, palpitations, dyspnea, several deaths of heart failure; 8-12y-inable to walk (HP:0002540)	SGCA	SGCB	2	1	Johan den Dunnen
00133567	-	PubMed: Bonnemann, PubMed: Duggan, OMIM:var0003	-	F	-	Italy	-	-	-	-	-	MD	14y-inable to walk (HP:0002540)	SGCA	SGCB	2	1	Johan den Dunnen
00133573	-	PubMed: Duggan	-	-	-	-	United States/Italy	-	-	-	-	MD	>11y-inable to walk (HP:0002540)	SGCA	SGCB	2	1	Johan den Dunnen
00133577	-	PubMed: Duggan	-	-	-	-	United States/Italy	-	-	-	-	MD	>8y-inable to walk (HP:0002540)	SGCA	SGCB	2	1	Johan den Dunnen
00133584	-	PubMed: Love	-	M	-	India	-	>12y	-	-	-	MD	1400 elevated CPK (HP:0003236)	SGCA	SGCB	2	1	Johan den Dunnen
00133585	-	PubMed: Fanin 2003, OMIM:var0003	deceased of cardiac failure	M	-	Italy	-	14y	-	-	-	MD	12y-inable to walk (HP:0002540)	SGCA	SGCB	2	1	Johan den Dunnen
00133586	-	PubMed: Fanin 2003, OMIM:var0003	-	F	-	Italy	-	>9y	-	-	-	MD	high CPK (HP:0003236); >9y-inable to walk (HP:0002540)	SGCA	SGCB	2	1	Johan den Dunnen
00133596	-	PubMed: Duggan	second degree cousins of 16934466-IV.4 and relative III.4, 4 generation family; 31 in Duggan 1997	M	-	Italy	-	-	-	-	-	MD	-	SGCA	SGCB	2	1	Johan den Dunnen
00133606	-	-	-	-	-	United States	Arab	-	-	-	-	MD	-	SGCA	SGCB	2	1	Tom Winder
00133666	-	PubMed: Duggan 1997, OMIM:var0003	-	F	-	United States	-	-	-	-	-	MD	-	SGCD	SGCD	1	1	Johan den Dunnen
00133668	-	PubMed: Nigro 1996, PubMed: Moreira 2003, OMIM:var0001	3 affecteds (1M, 2F)	-	-	Brazil	-	-	-	-	-	MD	-	SGCD	SGCD	2	3	Johan den Dunnen
00133669	-	PubMed: Nigro 1996, PubMed: Moreira 2003, OMIM:var0001	3 affecteds (1M, 2F)	-	-	Brazil	-	-	-	-	-	MD	-	SGCD	SGCD	2	3	Johan den Dunnen
00133670	-	PubMed: Nigro 1996, PubMed: Moreira 2003, OMIM:var0001	-	M	-	Brazil	-	-	-	-	-	MD	-	SGCD	SGCD	2	1	Johan den Dunnen
00133671	-	PubMed: Nigro 1996, PubMed: Moreira 2003, OMIM:var0001	-	F	-	Brazil	-	-	-	-	-	MD	-	SGCD	SGCD	2	1	Johan den Dunnen
00133672	-	PubMed: Duggan 1997, OMIM:var0002	child adopted	F	-	United States	-	-	-	-	-	MD	-	SGCD	SGCD	2	1	Johan den Dunnen

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Global Variome shared LOVD

SYNE1 (spectrin repeat containing, nuclear envelope 1)