Disease #05378 (BMD/DMD (dystrophinopathy (BMD or DMD)))

Official abbreviation	BMD/DMD
Name	dystrophinopathy (BMD or DMD)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	12753
Phenotype entries for this disease	14820
Associated with 1 gene	DMD
Associated tissues	-
Disease features	-
Remarks	-

Individuals

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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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combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
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\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
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<=	Date	<=2020-06	all entries in or before June, 2020
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>=	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
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\|	Numeric	23\|24	all entries exactly matching 23 or 24
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<	Numeric	<23	all entries lower than 23
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Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
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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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12753 entries on 128 pages. Showing entries 1 - 100.

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Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00000011	NA04364	PubMed: Bell 2011	-	M	-	-	-	-	-	-	autism, BMD/DMD, CF, deafness	-	ACADM, ADA, ATP7B, ATR, CFTR, DMD, DPYD, GLB1, IGHMBP2, NHLRC1, SERPINA1, SMPD1, TNNT1	ADA, ATP7B, ATR, DMD, DPYD, GLB1, IGHMBP2, NHLRC1, PRKAR1A, SERPINA1, SMPD1, TMPPE	11	1	Global Variome, with Curator vacancy
00000012	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	autism, BMD/DMD	-	ACADVL, ADA, AGL, ATP7B, CYP21A2, DPYD, ETFB, GBA, HGSNAT, IGHMBP2, LAMA2, MYO5A, NHLRC1, NPHS1, SERPINA1, SLC26A2	ACADVL, ADA, ALMS1, ATP7B, CYP21A2, DPYD, ETFB, GBA, HGSNAT, IGHMBP2, LAMA2, MYO5A, NHLRC1, NPHS1, PRKAR1A, SAMHD1, SERPINA1, SLC26A2	16	1	Global Variome, with Curator vacancy
00000013	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	autism, BMD/DMD	-	AGL, ATP7B, COL7A1, HADHA, MEFV, NHLRC1, PAH, SMPD1	AGL, ATP7B, COL7A1, HADHA, MEFV, NHLRC1, PAH, SMPD1	8	1	Global Variome, with Curator vacancy
00000014	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	autism, BMD/DMD	-	ALG6, ATP7B, CFTR, DPYD, ETFB, GLB1, GNPTAB, HEXB, IGHMBP2, MYO5A, NHLRC1, NPHP4, NPHS1, PKHD1, SERPINA1, SFTPB, SGSH, TSFM	ALG6, ATP7B, CFTR, DPYD, ETFB, GLB1, GNPTAB, HEXB, HTT, HUWE1, IGHMBP2, MYO5A, NHLRC1, NPHP4, NPHS1, PKHD1, PRKAR1A, SERPINA1, SFTPB, SGSH, SLC37A4, SNRNP200, TMPPE, TSFM	22	1	Global Variome, with Curator vacancy
00000015	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	autism, BMD/DMD	-	ALG6, ARSB, ATP7B, BMPR2, DPYD, ETFB, GALC, GLB1, NHLRC1, NPHS1, SERPINA1, TGM1	ALG6, ARSB, ATP7B, BMPR2, DPYD, ETFB, GALC, GLB1, NHLRC1, NPHS1, PRKAR1A, SERPINA1, TMPPE	11	1	Global Variome, with Curator vacancy
00000016	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	autism, BMD/DMD	-	ADA, ALG6, ATP7B, CFTR, DPYD, ENPP1, GLB1, IGHMBP2, NPHS1, PKHD1	ADA, ALG6, ATP7B, CFTR, DPYD, ENPP1, GLB1, IGHMBP2, NPHS1, PKHD1, PRKAR1A, TMPPE	10	1	Global Variome, with Curator vacancy
00000017	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	autism, BMD/DMD	-	ALG6, ASPA, ATP7B, DPYD, GLB1, LAMA2, MMACHC, MPL, MYO5A, NHLRC1, NPHS1, SERPINA1, SMPD1	ALG6, ASPA, ATP7B, DPYD, GLB1, LAMA2, MMACHC, MYO5A, NHLRC1, NPHS1, PHOX2B, PRKAR1A, SERPINA1, SMPD1, TMPPE	14	1	Global Variome, with Curator vacancy
00000018	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	autism, BMD/DMD	-	ALG6, ASPA, ATP7B, DPYD, GLB1, LAMA2, MMACHC, MPL, MYO5A, NHLRC1, NPHS1, SERPINA1, SMPD1	ALG6, ASPA, ATP7B, DPYD, GLB1, LAMA2, MMACHC, MPL, MYO5A, NHLRC1, NPHS1, PHOX2B, PRKAR1A, SERPINA1, SMPD1, TMPPE	15	1	Global Variome, with Curator vacancy
00000019	-	PubMed: Almomani 2011	-	-	-	-	-	-	-	-	autism, BMD/DMD, TSC	-	AFF2, ALG12, ALG6, B3GLCT, B4GALT1, BBS12, CDK5RAP2, CENPJ, CRBN, DHCR7, EP300, IL1RAPL1, KDM5C, KRAS, MCPH1, MED12, NSD1, NUFIP1, POMT1, RAB3GAP2, RAF1, SATB2, SCN8A, SIL1, TSC1	AFF2, ALG12, B3GLCT, B4GALT1, BBS12, CDK5RAP2, CENPJ, CRBN, DHCR7, EP300, IL1RAPL1, KDM5C, KRAS, MCPH1, MED12, MFN2, NSD1, NUFIP1, POMT1, RAB3GAP2, RAF1, SATB2, SCN8A, SIL1, TSC1	44	1	Global Variome, with Curator vacancy
00000021	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	BMD/DMD	-	ALPL, BTD, CBS, DKC1, ETFB, GLB1, SBDS, SERPINA1	ALPL, BSCL2, BTD, DKC1, ETFB, GLB1, PRKAR1A, SBDS, SERPINA1, TMPPE	7	1	Global Variome, with Curator vacancy
00000022	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	BMD/DMD	-	ALPL, ATP7B, CBS, DPYD, ETFB, GALC, GLB1, NPHS1, PAH, SERPINA1, SLC26A2	ALPL, ATP7B, DPYD, ETFB, GALC, GLB1, NPHS1, PAH, PHOX2B, SERPINA1, SLC26A2, TMPPE	13	1	Global Variome, with Curator vacancy
00000023	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	BMD/DMD	-	ALPL, ATP7B, CBS, CEP290, COL17A1, CYP21A2, DPYD, GBA, GLB1, NHLRC1, SERPINA1, SLC26A2, SLC3A1, SMPD1	ALPL, ATP7B, CEP290, COL17A1, CYP21A2, DPYD, GBA, GLB1, HTT, NHLRC1, SERPINA1, SLC26A2, SLC3A1, SMPD1, TMPPE	16	1	Global Variome, with Curator vacancy
00000024	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	BMD/DMD	-	AGA, AMPD1, ATP7B, CBS, CPT1A, CYP21A2, DPYD, ETFB, MEFV, NPHP4, NPHS1, SERPINA1	AGA, AMPD1, ATP7B, CPT1A, CYP21A2, DPYD, ETFB, HUWE1, MEFV, NPHP4, NPHS1, SERPINA1, TRIO	15	1	Global Variome, with Curator vacancy
00000025	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	BMD/DMD	-	AMPD1, ATP7B, ATR, CBS, CFTR, CYP21A2, ETFB, GLB1, HBB, IGHMBP2, NPHS1, PAH, SERPINA1, SLC26A2	ATP7B, ATR, BBS2, CFTR, CYP21A2, ETFB, GLB1, HBB, IGHMBP2, NPHS1, PAH, SERPINA1, SLC26A2, TMPPE	14	1	Global Variome, with Curator vacancy
00043866	-	PubMed: Ramos 2016, Journal: Ramos 2016	-	M	-	Puerto Rico	-	>10y	-	medication steroids; no ventilator; surgery contractures	BMD/DMD	contractures (HP:0001371); no scoliosis (-HP:0002650); loss ability to walk (HP:0006957) <08y; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no abnormality lung; CK level 4439	DMD	-	0	1	Manuel F. Mas Rodriguez
00043867	-	PubMed: Ramos 2016, Journal: Ramos 2016	-	M	-	Puerto Rico	-	>12y	-	medication steroids; no ventilator; no surgery scoliosis/contractures	BMD/DMD	confirmatory test DNA/muscle biopsy; scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; contractures (HP:0001371); CK level 19076; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091)	DMD	-	0	1	Manuel F. Mas Rodriguez
00043868	-	PubMed: Ramos 2016, Journal: Ramos 2016	-	M	-	Puerto Rico	-	>7y	-	no medication; no ventilator; no surgery contractures	BMD/DMD	confirmatory test DNA/muscle biopsy; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >7y; contractures (HP:0001371); CK level 18065; no cardiomyopathy (-HP:0001638); intellectual disability (HP:0001249); no restrictive lung disease (-HP:0002091)	DMD	-	0	1	Manuel F. Mas Rodriguez
00043873	-	PubMed: Ramos 2016, Journal: Ramos 2016	-	M	-	Puerto Rico	-	>12y	-	no medication; no ventilator;	BMD/DMD	no contractures (-HP:0001371); no scoliosis (-HP:0002650); loss ability to walk (HP:0006957) >12y; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no abnormality lung; CK level 618	DMD	-	0	1	Manuel F. Mas Rodriguez
00043874	-	PubMed: Ramos 2016, Journal: Ramos 2016	-	M	-	Puerto Rico	-	>19y	-	no medication; no ventilator;	BMD/DMD	no contractures (-HP:0001371); no scoliosis (-HP:0002650); loss ability to walk (HP:0006957) >19y; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no abnormality lung; CK level 23742	DMD	-	0	1	Manuel F. Mas Rodriguez
00043963	-	PubMed: Ramos 2016, Journal: Ramos 2016	-	M	-	Puerto Rico	-	>6y	-	no medication; no ventilator;	BMD/DMD	no contractures (-HP:0001371); no scoliosis (-HP:0002650); loss ability to walk (HP:0006957) >6y; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no abnormality lung; CK level 15462	DMD	-	0	1	Manuel F. Mas Rodriguez
00074388	-	PubMed: Luce 2021	-	-	no	Argentina	-	-	-	-	BMD/DMD	-	DMD	DMD	1	1	Florencia Giliberto
00074389	-	PubMed: Luce 2021	-	M	no	Argentina	-	-	-	-	BMD/DMD	elevated serum CPK (HP:0003236) 6704IU/L; 11y-lost ability to walk (HP:0006957)	DMD	DMD	1	1	Florencia Giliberto
00081839	-	PubMed: Luce 2018 PubMed: Luce 2021	4-generation family, 3 affected males, 3 carrier females	M	-	Argentina	-	-	-	-	BMD/DMD	CK level 10374-4260 U/L	DMD	DMD	1	3	Florencia Giliberto
00081896	-	PubMed: Luce 2021	-	M	?	Argentina	-	-	-	-	BMD/DMD	-	DMD	DMD	1	1	Florencia Giliberto
00104713	-	PubMed: Luce 2021	-	M	-	Argentina	-	-	-	-	BMD/DMD	develomental delay (HP:0001263), language disabilities (HP:0002463), hypotonia (HP:0001290), Gower's (HP:0003391), frequent falls; elevated serum CPK (HP:0003236)	DMD	DMD	1	1	Florencia Giliberto
00105210	patient	PubMed: Koczok 2017	-	M	no	Hungary	-	-	-	-	BMD/DMD	mild generalized muscle weakness, hypotonia, delayed motor development; EMG myopathic features; no contractures (-HP:0001371); no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no abnormality lung; CK level 1497	DMD	DMD	1	1	Katalin Koczok
00107536	-	PubMed: Luce 2018 PubMed: Luce 2021	-	M	-	Argentina	-	-	-	5 years of Corticosteroid Treatment	BMD/DMD	elevated serum CPK (HP:0003236) 9008 UI/L; no intellectual disability (-HP:0001249)	DMD	DMD	2	1	Florencia Giliberto
00107537	-	PubMed: Luce 2018 PubMed: Luce 2021	-	M	-	Argentina	-	-	-	5 years of Corticosteroid Treatment	BMD/DMD	loss ability to walk (HP:0006957) 13y; elevated serum CPK (HP:0003236) 10392 UI/L	DMD	DMD	1	1	Florencia Giliberto
00107538	-	PubMed: Luce 2018 PubMed: Luce 2021	-	M	-	Argentina	-	-	-	-	BMD/DMD	-	DMD	DMD	1	1	Florencia Giliberto
00107539	-	PubMed: Luce 2018 PubMed: Luce 2021	-	M	-	Argentina	-	-	-	-	BMD/DMD	walk-2y; 0.9y early stimulation/defficient body sustenance; hypoacoustisc; raised CPK 2.662 UI/L	DMD	DMD	1	1	Florencia Giliberto
00107540	-	PubMed: Luce 2018 PubMed: Luce 2021	-	M	-	Argentina	-	-	-	-	BMD/DMD	-	DMD	DMD	1	1	Florencia Giliberto
00107541	-	PubMed: Luce 2018 PubMed: Luce 2021	-	M	-	Argentina	-	-	-	-	BMD/DMD	-	DMD	DMD	1	1	Florencia Giliberto
00126986	FamPatIII1	PubMed: Punetha 2016	patient III1	M	no	United States	-	-	-	-	BMD/DMD	hemi-atrophy, weakness, largely limited to left side; EMG dystrophic myopathy, raised serum CPK (HP:0003236) (43000 IU/l; n: 200 IU/l)	DMD	DMD	2	1	Jaya Punetha
00127310	-	Richards ASHG 2003 A2335	-	-	-	United States	-	-	-	-	BMD/DMD	-	DMD	DMD	1	1	Johan den Dunnen
00133292	-	Ginjaar WMS2005, PubMed: Ten Dam 2019	-	M	-	Netherlands	-	-	-	-	BMD/DMD	22y-invasive ventilation	SGCA	SGCA	2	2	Ieke Ginjaar
00133300	Pat7	PubMed: Ginjaar 2000	-	F	?	Netherlands	-	>18y	-	-	BMD/DMD	14y-inable to walk (HP:0002540); 90x elevated CPK (HP:0003236)	SGCA	SGCA	2	1	Ieke Ginjaar
00133303	-	PubMed: Duggan	-	-	-	-	United States/Italy	-	-	-	BMD/DMD	12y-inable to walk (HP:0002540)	SGCA	SGCA	1	1	Johan den Dunnen
00133310	-	PubMed: Duggan	-	-	-	-	United States/Italy	-	-	-	BMD/DMD	>13y-inable to walk (HP:0002540)	SGCA	SGCA	2	1	Johan den Dunnen
00133311	-	PubMed: Duggan	-	-	-	-	United States/Italy	-	-	-	BMD/DMD	>12y-inable to walk (HP:0002540)	SGCA	SGCA	2	1	Johan den Dunnen
00133312	-	PubMed: Duggan	-	-	-	-	United States/Italy	-	-	-	BMD/DMD	>9y-inable to walk (HP:0002540)	SGCA	SGCA	2	1	Johan den Dunnen
00133313	-	PubMed: Schara	-	M	-	Russia	-	-	-	-	BMD/DMD	12y-inable to walk (HP:0002540); 6360 elevated CPK (HP:0003236)	SGCA	SGCA	2	1	Johan den Dunnen
00133316	-	PubMed: Carrie 1997	-	-	-	United States	-	-	-	-	BMD/DMD	-	SGCA	SGCA	2	1	Johan den Dunnen
00133346	-	{DB: Porto}	-	M	-	Portugal	-	-	-	-	BMD/DMD	-	SGCA	SGCA	2	1	Johan den Dunnen
00133357	-	PubMed: Duggan	-	-	-	-	United States/Italy	-	-	-	BMD/DMD	12y-inable to walk (HP:0002540)	SGCA	SGCA	2	1	Johan den Dunnen
00133363	-	PubMed: Fischer	see also heterozygotes SGCA_00023	F	-	Germany	-	>11y	-	-	BMD/DMD	7449 elevated CPK (HP:0003236)	SGCA	SGCA	2	1	Johan den Dunnen
00133365	-	PubMed: Duggan	-	-	-	-	-	-	-	-	BMD/DMD	-	SGCA	SGCA	1	1	Johan den Dunnen
00133374	-	PubMed: Duggan	-	-	-	-	United States/Italy	-	-	-	BMD/DMD	10y-inable to walk (HP:0002540)	SGCA	SGCA	2	1	Johan den Dunnen
00133379	-	PubMed: Boito	-	F	-	Italy	-	-	-	-	BMD/DMD	12y-inable to walk (HP:0002540)	SGCA	SGCA	2	1	Johan den Dunnen
00133380	-	PubMed: Duggan	-	-	-	-	United States/Italy	-	-	-	BMD/DMD	>10y-inable to walk (HP:0002540)	SGCA	SGCA	2	1	Johan den Dunnen
00133381	-	PubMed: Duggan	-	-	-	-	United States/Italy	-	-	-	BMD/DMD	>14y-inable to walk (HP:0002540)	SGCA	SGCA	2	1	Johan den Dunnen
00133468	-	PubMed: Eymard 1997, PubMed: Crosbie 2000	-	F	no	(Italy);(France)	Europe	>21y	-	-	BMD/DMD	clinical grade VII, walk tip-toe; <15y-inable to walk (HP:0002540)	SGCA	SGCA	2	1	Johan den Dunnen
00133470	-	PubMed: Eymard 1997	-	M	no	(Italy);(France)	Europe	>29y	-	-	BMD/DMD	-	SGCA	SGCA	2	1	Johan den Dunnen
00138945	-	-	-	M	-	Netherlands	-	-	-	-	BMD/DMD	6y-diagnosis; 14y-condition stable, able to skate, stand up from lying down without support hand	DMD	DMD	1	1	Ieke Ginjaar
00139205	-	-	-	M	-	Germany	-	-	-	-	BMD/DMD	elevated CK (2500 U/L), muscle pain, muscle cramps, muscle weakness	DMD	DMD	1	1	Ieke Ginjaar
00146078	Pat18/PatIII1	PubMed: De Almeida 2017, PubMed: Coimbra Neto 2021	4-generation family, 6 affected (6M), 4 carrier females	M	-	Brazil	Campinas	-	-	-	BMD/DMD	see paper; ...; 24y-wheelchair-bound; 25y-FVC 0.57, raised serum CK 1897 U/L (11x)	DMD	DMD	1	6	Johan den Dunnen
00150889	Pat?	PubMed: Zhong 2017	-	M	-	China	-	-	-	-	BMD/DMD	-	DMD	DMD	1	1	Johan den Dunnen
00150905	Pat?	PubMed: Zhong 2017	-	M	-	China	-	-	-	-	BMD/DMD	-	DMD	DMD	1	1	Johan den Dunnen
00150976	Pat?	PubMed: Cho 2017	-	M	-	Korea	-	-	-	-	BMD/DMD	-	DMD	DMD	1	1	Moon-Woo Seong
00150986	Pat?	PubMed: Cho 2017	-	M	-	Korea	-	-	-	-	BMD/DMD	-	DMD	DMD	1	1	Moon-Woo Seong
00150996	Pat?	PubMed: Cho 2017	-	M	-	Korea	-	-	-	-	BMD/DMD	-	DMD	DMD	1	1	Moon-Woo Seong
00150999	Pat?	PubMed: Cho 2017	-	M	-	Korea	-	-	-	-	BMD/DMD	-	DMD	DMD	1	1	Moon-Woo Seong
00151000	Pat?	PubMed: Cho 2017	-	M	-	Korea	-	-	-	-	BMD/DMD	-	DMD	DMD	1	1	Moon-Woo Seong
00151014	Pat?	PubMed: Cho 2017	-	M	-	Korea	-	-	-	-	BMD/DMD	-	DMD	DMD	1	1	Moon-Woo Seong
00151015	Pat?	PubMed: Cho 2017	-	M	-	Korea	-	-	-	-	BMD/DMD	-	DMD	DMD	1	1	Moon-Woo Seong
00151020	Pat?	PubMed: Cho 2017	-	M	-	Korea	-	-	-	-	BMD/DMD	-	DMD	DMD	1	1	Moon-Woo Seong
00151035	Pat?	PubMed: Cho 2017	-	M	-	Korea	-	-	-	-	BMD/DMD	-	DMD	DMD	1	1	Moon-Woo Seong
00151039	Pat?	PubMed: Cho 2017	-	M	-	Korea	-	-	-	-	BMD/DMD	-	DMD	DMD	1	1	Moon-Woo Seong
00151040	Pat?	PubMed: Cho 2017	-	M	-	Korea	-	-	-	-	BMD/DMD	-	DMD	DMD	1	1	Moon-Woo Seong
00151046	Pat?	PubMed: Cho 2017	-	M	-	Korea	-	-	-	-	BMD/DMD	-	DMD	DMD	1	1	Moon-Woo Seong
00151049	Pat?	PubMed: Cho 2017	-	M	-	Korea	-	-	-	-	BMD/DMD	-	DMD	DMD	1	1	Moon-Woo Seong
00151057	Pat?	PubMed: Cho 2017	-	M	-	Korea	-	-	-	-	BMD/DMD	-	DMD	DMD	1	1	Moon-Woo Seong
00151061	Pat?	PubMed: Cho 2017	-	M	-	Korea	-	-	-	-	BMD/DMD	-	DMD	DMD	1	1	Moon-Woo Seong
00151062	Pat?	PubMed: Cho 2017	-	M	-	Korea	-	-	-	-	BMD/DMD	-	DMD	DMD	1	1	Moon-Woo Seong
00151064	Pat?	PubMed: Cho 2017	-	M	-	Korea	-	-	-	-	BMD/DMD	-	DMD	DMD	1	1	Moon-Woo Seong
00151065	Pat?	PubMed: Cho 2017	-	M	-	Korea	-	-	-	-	BMD/DMD	-	DMD	DMD	1	1	Moon-Woo Seong
00151066	Pat?	PubMed: Cho 2017	-	M	-	Korea	-	-	-	-	BMD/DMD	-	DMD	DMD	1	1	Moon-Woo Seong
00151067	Pat?	PubMed: Cho 2017	-	M	-	Korea	-	-	-	-	BMD/DMD	-	DMD	DMD	1	1	Moon-Woo Seong
00151068	Pat?	PubMed: Cho 2017	-	M	-	Korea	-	-	-	-	BMD/DMD	-	DMD	DMD	1	1	Moon-Woo Seong
00151069	Pat?	PubMed: Cho 2017	-	M	-	Korea	-	-	-	-	BMD/DMD	-	DMD	DMD	1	1	Moon-Woo Seong
00151070	Pat?	PubMed: Cho 2017	-	M	-	Korea	-	-	-	-	BMD/DMD	-	DMD	DMD	1	1	Moon-Woo Seong
00151072	Pat?	PubMed: Cho 2017	-	M	-	Korea	-	-	-	-	BMD/DMD	-	DMD	DMD	1	1	Moon-Woo Seong
00151074	Pat?	PubMed: Cho 2017	-	M	-	Korea	-	-	-	-	BMD/DMD	-	DMD	DMD	1	1	Moon-Woo Seong
00151077	Pat?	PubMed: Cho 2017	-	M	-	Korea	-	-	-	-	BMD/DMD	-	DMD	DMD	1	1	Moon-Woo Seong
00151078	Pat?	PubMed: Cho 2017	-	M	-	Korea	-	-	-	-	BMD/DMD	-	DMD	DMD	1	1	Moon-Woo Seong
00151079	Pat?	PubMed: Cho 2017	-	M	-	Korea	-	-	-	-	BMD/DMD	-	DMD	DMD	1	1	Moon-Woo Seong
00151080	Pat?	PubMed: Cho 2017	-	M	-	Korea	-	-	-	-	BMD/DMD	-	DMD	DMD	1	1	Moon-Woo Seong
00151081	Pat?	PubMed: Cho 2017	-	M	-	Korea	-	-	-	-	BMD/DMD	-	DMD	DMD	1	1	Moon-Woo Seong
00151086	Pat?	PubMed: Cho 2017	-	M	-	Korea	-	-	-	-	BMD/DMD	-	DMD	DMD	1	1	Moon-Woo Seong
00151090	Pat?	PubMed: Cho 2017	-	M	-	Korea	-	-	-	-	BMD/DMD	-	DMD	DMD	1	1	Moon-Woo Seong
00151091	Pat?	PubMed: Cho 2017	-	M	-	Korea	-	-	-	-	BMD/DMD	-	DMD	DMD	1	1	Moon-Woo Seong
00151092	Pat?	PubMed: Cho 2017	-	M	-	Korea	-	-	-	-	BMD/DMD	-	DMD	DMD	1	1	Moon-Woo Seong
00151093	Pat?	PubMed: Cho 2017	-	M	-	Korea	-	-	-	-	BMD/DMD	-	DMD	DMD	1	1	Moon-Woo Seong
00151094	Pat?	PubMed: Cho 2017	-	M	-	Korea	-	-	-	-	BMD/DMD	-	DMD	DMD	1	1	Moon-Woo Seong
00151095	Pat?	PubMed: Cho 2017	-	M	-	Korea	-	-	-	-	BMD/DMD	-	DMD	DMD	1	1	Moon-Woo Seong
00151096	Pat?	PubMed: Cho 2017	-	M	-	Korea	-	-	-	-	BMD/DMD	-	DMD	DMD	1	1	Moon-Woo Seong
00151097	Pat?	PubMed: Cho 2017	-	M	-	Korea	-	-	-	-	BMD/DMD	-	DMD	DMD	1	1	Moon-Woo Seong
00151098	Pat?	PubMed: Cho 2017	-	M	-	Korea	-	-	-	-	BMD/DMD	-	DMD	DMD	1	1	Moon-Woo Seong
00151099	Pat?	PubMed: Cho 2017	-	M	-	Korea	-	-	-	-	BMD/DMD	-	DMD	DMD	1	1	Moon-Woo Seong
00151100	Pat?	PubMed: Cho 2017	-	M	-	Korea	-	-	-	-	BMD/DMD	-	DMD	DMD	1	1	Moon-Woo Seong
00151102	Pat?	PubMed: Cho 2017	-	M	-	Korea	-	-	-	-	BMD/DMD	-	DMD	DMD	1	1	Moon-Woo Seong

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