Disease #01943 (LGMDR2;LGMD2B (dystrophy, muscular, limb-girdle, autosomal recessive, type 2 (LGMD2B)), OMIM:253601)

Official abbreviation	LGMDR2;LGMD2B
Name	dystrophy, muscular, limb-girdle, autosomal recessive, type 2 (LGMD2B)
OMIM ID	253601
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	33
Phenotype entries for this disease	33
Associated with 1 gene	DYSF
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2024-01-12 20:47:59 +01:00 (CET)

Individuals

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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
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Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
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Aruba
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Australia
(Australia)
Austria
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Azerbaijan
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Bahamas
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Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
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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
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Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
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Moldova
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Monaco
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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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\|	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
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\|	Numeric	23\|24	all entries exactly matching 23 or 24
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Example	Matches
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33 entries on 1 page. Showing entries 1 - 33.

Legend

How to query

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
00046458	FamPatIII4	PubMed: Lazar 2015; Journal: Lazar 2015	3-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/sister	F	-	Israel	Arab, Muslim	-	-	-	-	CORD, LGMDR2;LGMD2B	muscular dystrophy (HP:0003560), elevated serum creatine phosphokinase (HP:0003236), lower limb muscle weakness (HP:0007340), visual loss (HP:0000572), photophobia (HP:0000613), pendular nystagmus (HP:0012043), rod-cone dystrophy (HP:0000510)	ALMS1, DYSF	ALMS1, DYSF	3	2	Csilla Lazar
00073166	26077327-PatIII4	PubMed: Lazar 2015, Journal: Lazar 2015	brother	M	yes	Palestine	-	-	-	-	-	ALMS, LGMDR2;LGMD2B	muscular dystrophy (HP:0003560), elevated serum creatine phosphokinase (HP:0003236), lower limb muscle weakness (HP:0007340), Visual loss (HP:0000572), Photophobia (HP:0000613), Pendular nystagmus (HP:0012043),	ALMS1, DYSF	ALMS1, DYSF	3	1	Pieter Klap
00073180	25868377 NP12	PubMed: Shin 2015, Journal: Shin 2015	-	F	-	(Korea, South (Republic))	-	>30y	-	-	-	LGMDR2;LGMD2B	Difficulty to rise from floor (HP:0004302), no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236)	DYSF	DYSF	2	1	Pieter Klap
00073661	25591676 F1-300-1-2	PubMed: Xi 2014, Journal: Xi 2014	-	F	-	China	-	>24y	-	-	-	LGMDR2;LGMD2B	no scapular winging (-HP:0003691), unable to stand on tiptoes (HP:0004302), unable to rise from floor (HP:0004302), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114)	DYSF	DYSF	1	1	Pieter Klap
00073669	25591676 F1-303-1-1	PubMed: Xi 2014, Journal: Xi 2014	-	M	-	China	-	>41y	-	-	-	LGMDR2;LGMD2B	no scapular winging (-HP:0003691), unable to stand on tiptoes (HP:0004302), Difficulty walking (HP:0002355), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114),	DYSF	DYSF	2	1	Pieter Klap
00073671	25591676 F1-304-1-1	PubMed: Xi 2014, Journal: Xi 2014	-	M	-	China	-	>28y	-	-	-	LGMDR2;LGMD2B	no scapular winging (-HP:0003691), unable to stand on tiptoes (HP:0004302), unable to rise from floor (HP:0004302), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114),	DYSF	DYSF	2	1	Pieter Klap
00073672	25591676 F1-305-1-2	PubMed: Xi 2014, Journal: Xi 2014	-	F	-	China	-	>44y	-	-	-	LGMDR2;LGMD2B	no scapular winging (-HP:0003691), unable to stand on tiptoes (HP:0004302), Gait disturbance (HP:0001288), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114),	DYSF	DYSF	2	1	Pieter Klap
00073673	25591676 F1-306-1-1	PubMed: Xi 2014, Journal: Xi 2014	-	M	-	China	-	>29y	-	-	-	LGMDR2;LGMD2B	Scapular winging (HP:0003691), unable to stand on tiptoes (HP:0004302), Difficulty climbing stairs (HP:0003551), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114),	DYSF	DYSF	2	1	Pieter Klap
00073674	25591676 F1-307-1-2	PubMed: Xi 2014, Journal: Xi 2014	-	F	-	China	-	>27y	-	-	-	LGMDR2;LGMD2B	no scapular winging (-HP:0003691), unable to stand on tiptoes (HP:0004302), Muscle weakness (HP:0001324), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114),	DYSF	DYSF	2	1	Pieter Klap
00073675	25591676 F1-330-1-1	PubMed: Xi 2014, Journal: Xi 2014	-	M	-	China	-	>49y	-	-	-	LGMDR2;LGMD2B	no scapular winging (-HP:0003691), unable to stand on tiptoes (HP:0004302), Difficulty walking (HP:0002355), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114),	DYSF	DYSF	2	1	Pieter Klap
00073676	25591676 F1-308-1-1	PubMed: Xi 2014, Journal: Xi 2014	-	M	-	China	-	>37y	-	-	-	LGMDR2;LGMD2B	no scapular winging (-HP:0003691), unable to stand on tiptoes (HP:0004302), unable to rise from floor (HP:0004302), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114),	DYSF	DYSF	2	1	Pieter Klap
00073677	25591676 F1-309-1-2	PubMed: Xi 2014, Journal: Xi 2014	-	F	-	China	-	>25y	-	-	-	LGMDR2;LGMD2B	no scapular winging (-HP:0003691), unable to stand on tiptoes (HP:0004302), Gowers sign (HP:0003391), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114),	DYSF	DYSF	2	1	Pieter Klap
00073678	25591676 F1-310-1-1	PubMed: Xi 2014, Journal: Xi 2014	-	M	-	China	-	>20y	-	-	-	LGMDR2;LGMD2B	no scapular winging (-HP:0003691), unable to stand on tiptoes (HP:0004302), unable to rise from floor (HP:0004302), Elevated serum creatine phosphokinase (HP:0003236), Reduced muscle fiber dysferlin (HP:0030115)	DYSF	DYSF	2	1	Pieter Klap
00073679	25591676 F1-3251-1	PubMed: Xi 2014, Journal: Xi 2014	-	M	-	China	-	>30y	-	-	-	LGMDR2;LGMD2B	no scapular winging (-HP:0003691), unable to stand on tiptoes (HP:0004302), unable to rise from floor (HP:0004302), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114),	DYSF	DYSF	2	1	Pieter Klap
00073680	25591676 F1-312-1-2	PubMed: Xi 2014, Journal: Xi 2014	-	F	-	China	-	>27y	-	-	-	LGMDR2;LGMD2B	no scapular winging (-HP:0003691), unable to stand on tiptoes (HP:0004302), unable to get up from a chair (HP:0004302), Elevated serum creatine phosphokinase (HP:0003236),	DYSF	DYSF	2	1	Pieter Klap
00073749	17129727 pt.1	PubMed: Diers 2007, Journal: Diers 2007	-	F	no	(Germany)	white	>14y	-	-	-	LGMDR2;LGMD2B	Enlarged calf muscle (HP:00014300), Difficulty running (HP:0009046), Elevated serum creatine phosphokinase (HP:0003236), no arrhythmia (-HP:0011675), normal echocardiogram (-HP:0003116), Subcapsular cataract (HP:0000523), Reduced muscle fiber dysferlin (HP:0030115)	DYSF	DYSF	2	1	Pieter Klap
00073753	16705711 A.IV:1	PubMed: Wenzel 2006, Journal: Wenzel 2006	-	M	yes	-	Arabic Middle Eastern	-	-	-	-	LGMDR2;LGMD2B	Pelvic girdle muscle weakness (HP:0003749), Inability to walk (HP:0002540), Lower limb amyotrophy (HP:0007210), no calf muscle hypertrophy (-HP:0008981), Reduced muscle fiber dysferlin (HP:0030115),	DYSF	DYSF	1	1	Pieter Klap
00073754	16705711 B.II:1	PubMed: Wenzel 2006, Journal: Wenzel 2006	-	M	-	(Germany)	-	>38y	-	-	-	LGMDR2;LGMD2B	Difficulty climbing stairs (HP:0003551), Waddling gait (HP:0002515), Pelvic girdle muscle weakness (HP:0003749), Muscular dystrophy (HP:0003560), Absent muscle fiber dysferlin (HP:0030114)	DYSF	DYSF	2	1	Pieter Klap
00073755	16705711 B.II:3	PubMed: Wenzel 2006, Journal: Wenzel 2006	-	F	-	(Germany)	-	>25y	-	-	-	LGMDR2;LGMD2B	Difficulty running (HP:0009046), Waddling gait (HP:0002515), Pelvic girdle muscle weakness (HP:0003749), Muscular dystrophy (HP:0003560), Absent muscle fiber dysferlin (HP:0030114)	DYSF	DYSF	2	1	Pieter Klap
00301527	-	-	compound heterozygous patient	M	no	Greece	-	18y	-	-	-	LGMDR2;LGMD2B	-	DYSF	DYSF	2	1	Helen Latsoudis
00326804	-	Journal: Charnay 2021	-	F	-	France	-	-	-	-	-	LGMDR2;LGMD2B	Absent muscle fiber dysferlin HP:0030114, Elevated serum creatine kinase HP:0003236	DYSF	DYSF	3	1	Svetlana Gorokhova
00326928	-	Journal: Charnay 2021	-	M	yes	France	-	-	-	-	-	LGMDR2;LGMD2B	Absent muscle fiber dysferlin HP:0030114	DYSF	DYSF	1	2	Svetlana Gorokhova
00326988	-	Journal: Charnay 2021	-	M	-	France	-	-	-	-	-	LGMDR2;LGMD2B	Absent muscle fiber dysferlin HP:0030114	DYSF	DYSF	3	1	Svetlana Gorokhova
00327046	-	Journal: Charnay 2021	-	F	-	France	-	-	-	-	-	LGMDR2;LGMD2B	Muscular dystrophy HP:0003560, Abnormal muscle fiber dysferlin HP:0030113	DYSF	DYSF	2	1	Svetlana Gorokhova
00327048	-	Journal: Charnay 2021	-	F	-	-	-	-	-	-	-	LGMDR2;LGMD2B	Limb-girdle muscular dystrophy HP:0006785, Absent muscle fiber dysferlin HP:0030114	DYSF	DYSF	2	1	Svetlana Gorokhova
00327391	-	Journal: Charnay 2021	-	M	-	France	-	-	-	-	-	LGMDR2;LGMD2B	Limb-girdle muscular dystrophy HP:0006785, Absent muscle fiber dysferlin HP:0030114	DYSF	DYSF	3	1	Svetlana Gorokhova
00361916	Pat4	PubMed: Saat 2021	-	M	yes	Turkey	-	-	-	-	-	LGMDR2;LGMD2B	Muscle weakness HP:0001324	-	DYSF	1	1	Ibrahim Sahin
00387684	-	-	-	M	yes	Egypt	Egypt	-	-	-	-	LGMDR2;LGMD2B	27-y male with progressive distal weakness and wasting of both upper and lower limbs	DYSF	DYSF	1	1	Sherifa Ahmed Hamed
00402413	P32/Myo094	PubMed: Cerino 2022	-	M	yes	Chile	hispanic	-	-	-	-	LGMDR2;LGMD2B	LGMDR2 Miyoushi type	-	DYSF	1	1	JA Bevilacqua
00402414	P29/Myo091	PubMed: Cerino 2022	-	M	?	Chile	hispanic	-	-	-	-	LGMDR2;LGMD2B	-	-	DYSF	2	1	JA Bevilacqua
00402415	P23/Myo080	PubMed: Cerino 2022	-	M	no	Chile	hispanic	-	-	-	-	LGMDR2;LGMD2B	LGMD R2 dysfelin related	-	DYSF	2	1	JA Bevilacqua
00412984	-	-	-	?	-	Romania	-	-	-	-	-	LGMDR2;LGMD2B	-	DYSF	DYSF	1	1	Gisela Gaina
00453430	patient	PubMed: Sanchez-Casado 2024	-	F	-	France	-	-	-	-	-	LGMDR2;LGMD2B	Exercise-induced myalgia (HP:0003738) Increased muscle fatiguability (HP:0003750) Unilateral ptosis (HP:0007687) Elevated circulating creatine kinase concentration (HP:0003236)	DYSF	DYSF	2	1	Camille Verebi

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Global Variome shared LOVD

HSD17B4 (hydroxysteroid (17-beta) dehydrogenase 4)