All individuals with variants in gene DYSF

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)

Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

How to query this table

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

2655 entries on 27 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6	7	8	9	10	11	...		Next ›	Last »

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00000209	-	PubMed: Sun 2011, Journal: Sun 2011	-	M	no	Netherlands	-	-	-	-	-	CHTE	central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)	1	1	Yu Sun
00000288	-	PubMed: Makela 2002	-	-	-	Canada	-	-	-	-	-	DIAR1	-	1	1	Ivo F.A.C. Fokkema
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)	2	2	Csilla Lazar
00073140	26444858 A-1	PubMed: Petersen 2015, Journal: Petersen 2015	-	M	-	Switzerland	-	>58y	-	-	-	?	Steppage gait (HP:0003376), Elevated serum creatine phosphokinase (HP:0003236), normal echocardiogram (-HP:0003116), no arrhythmia (-HP:0011675), Decreased pulmonary function (HP:0005952),	2	1	Pieter Klap
00073143	26444858 A-2	PubMed: Petersen 2015, Journal: Petersen 2015	-	F	-	Switzerland	-	>54y	-	-	-	?	Difficulty walking on tiptoes (HP:0002355), Elevated serum creatine phosphokinase (HP:0003236), normal echocardiogram (-HP:0003116), no arrhythmia (-HP:0011675), EMG: myopathic tibialis anterior muscle (HP:0003458), EMG abnormality fibrillations (HP:0003457)	2	1	Pieter Klap
00073144	26444858 B-3	PubMed: Petersen 2015, Journal: Petersen 2015	-	F	-	Switzerland	-	>33y	-	-	-	?	Difficulty running (HP:0009046), Elevated serum creatine phosphokinase (HP:0003236), normal echocardiogram (-HP:0003116), no arrhythmia (-HP:0011675), EMG: myopathic Biceps brachii muscle (HP:0003458)	2	1	Pieter Klap
00073145	26444858 C-4	PubMed: Petersen 2015, Journal: Petersen 2015	-	M	-	Switzerland	-	>27y	-	-	-	?	Difficulty running (HP:0009046), Elevated serum creatine phosphokinase (HP:0003236), normal echocardiogram (-HP:0003116), no arrhythmia (-HP:0011675), EMG: myopathic Vastus lateralis muscle (HP:0003458)	1	1	Pieter Klap
00073147	26444858 C-5	PubMed: Petersen 2015, Journal: Petersen 2015	-	F	-	Switzerland	-	>24y	-	-	-	?	Difficulty walking on tiptoes (HP:0002355), Elevated serum creatine phosphokinase (HP:0003236), normal echocardiogram (-HP:0003116), no arrhythmia (-HP:0011675), EMG: myopathic tibialis anterior muscle (HP:0003458)	1	1	Pieter Klap
00073148	26444858 C-6	PubMed: Petersen 2015, Journal: Petersen 2015	-	F	-	Switzerland	-	>31y	-	-	-	?	-	2	1	Pieter Klap
00073150	26444858 C-7	PubMed: Petersen 2015, Journal: Petersen 2015	-	M	-	Switzerland	-	>16y	-	-	-	?	Difficulty toe walking (HP:0001288), Elevated serum creatine phosphokinase (HP:0003236), normal echocardiogram (-HP:0003116), no arrhythmia (-HP:0011675), EMG: myopathic Vastus lateralis muscle (HP:0003458)	1	1	Pieter Klap
00073151	26444858 C-8	PubMed: Petersen 2015, Journal: Petersen 2015	-	F	-	Switzerland	-	>54y	-	-	-	?	Lower limb muscle weakness (HP:0007340), EMG: myopathic abnormalities (HP:0003458)	1	1	Pieter Klap
00073152	26444858 D-9	PubMed: Petersen 2015, Journal: Petersen 2015	-	F	-	Switzerland	-	>45y	-	-	-	?	Gowers sign (HP:0003391), Elevated serum creatine phosphokinase (HP:0003236), normal echocardiogram (-HP:0003116), EMG: myopathic Vastus lateralis muscle (HP:0003458), EMG abnormality fibrillations (HP:0003457)	1	1	Pieter Klap
00073153	26444858 D-10	PubMed: Petersen 2015, Journal: Petersen 2015	-	F	-	Switzerland	-	>46y	-	-	-	?	-	1	1	Pieter Klap
00073154	26444858 D-11	PubMed: Petersen 2015, Journal: Petersen 2015	-	M	-	Switzerland	-	>48y	-	-	-	?	-	1	1	Pieter Klap
00073155	26444858 E-12	PubMed: Petersen 2015, Journal: Petersen 2015	-	M	-	Switzerland	-	>28y	-	-	-	?	Difficulty jumping (HP:0004302), Elevated serum creatine phosphokinase (HP:0003236), normal echocardiogram (-HP:0003116), no arrhythmia (-HP:0011675)	1	1	Pieter Klap
00073157	26444858 F-13	PubMed: Petersen 2015, Journal: Petersen 2015	-	M	-	Switzerland	-	>22y	-	-	-	?	Lower limb muscle weakness (HP:0007340), Elevated serum creatine phosphokinase (HP:0003236), normal echocardiogram (-HP:0003116), no arrhythmia (-HP:0011675), EMG: myopathic Gastrocnemius muscle (HP:0003458), EMG abnormality fibrillations (HP:0003457)	1	1	Pieter Klap
00073158	8597/8601	PubMed: Dominov 2014, Journal: Dominov 2014, PubMed: Nallamilli 2018	3-generation family, 2 affected brothers	M	no	United States	-	>20y	-	-	-	?	Difficulty walking (HP:0002355), Elevated serum creatine phosphokinase (HP:0003236), Lower limb amyotrophy (HP:0007210), Lower limb muscle weakness (HP:0007340),	2	10	Pieter Klap
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),	2	1	Pieter Klap
00073167	25868377 NP1	PubMed: Shin 2015, Journal: Shin 2015	-	M	-	(Korea, South (Republic))	-	>26y	-	-	-	?	Difficulty running (HP:0009046), Limb-girdle muscular dystrophy (HP:0006785), no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236)	2	1	Pieter Klap
00073172	25868377 NP3	PubMed: Shin 2015, Journal: Shin 2015	-	M	-	(Korea, South (Republic))	-	>50y	-	-	-	?	Difficulty to rise from floor (HP:0004302), Limb-girdle muscular dystrophy (HP:0006785), Muscle weakness (HP:0001324), no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236)	3	1	Pieter Klap
00073173	25868377 NP4	PubMed: Shin 2015, Journal: Shin 2015	-	F	-	(Korea, South (Republic))	-	>19y	-	-	-	?	Difficulty climbing stairs (HP:0003551), Limb-girdle muscular dystrophy (HP:0006785), no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236)	2	1	Pieter Klap
00073174	25868377 NP5	PubMed: Shin 2015, Journal: Shin 2015	-	F	-	(Korea, South (Republic))	-	>43y	-	-	-	?	Difficulty climbing stairs (HP:0003551), Limb-girdle muscular dystrophy (HP:0006785), no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236)	2	1	Pieter Klap
00073175	25868377 NP6	PubMed: Shin 2015, Journal: Shin 2015	-	F	-	(Korea, South (Republic))	-	>46y	-	-	-	?	Difficulty climbing stairs (HP:0003551), Limb-girdle muscular dystrophy (HP:0006785), no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236)	2	1	Pieter Klap
00073176	25868377 NP8	PubMed: Shin 2015, Journal: Shin 2015	-	F	-	(Korea, South (Republic))	-	>40y	-	-	-	?	Difficulty to rise from floor (HP:0004302), Limb-girdle muscular dystrophy (HP:0006785), no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236)	3	1	Pieter Klap
00073177	25868377 NP9	PubMed: Shin 2015, Journal: Shin 2015	-	F	-	(Korea, South (Republic))	-	>14y	-	-	-	?	Difficulty to rise from floor (HP:0004302), Limb-girdle muscular dystrophy (HP:0006785), myositis (HP:0100614), Elevated serum creatine phosphokinase (HP:0003236)	2	1	Pieter Klap
00073178	25868377 NP10	PubMed: Shin 2015, Journal: Shin 2015	-	F	-	(Korea, South (Republic))	-	>26y	-	-	-	?	Proximal muscle weakness in upper limbs (HP:0008997), Limb-girdle muscular dystrophy (HP:0006785), no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236)	2	1	Pieter Klap
00073179	25868377 NP11	PubMed: Shin 2015, Journal: Shin 2015	-	F	-	(Korea, South (Republic))	-	>33y	-	-	-	MMD	no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236)	2	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)	2	1	Pieter Klap
00073181	25868377 NP13	PubMed: Shin 2015, Journal: Shin 2015	-	F	-	(Korea, South (Republic))	-	>38y	-	-	-	LGMD	no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236)	2	1	Pieter Klap
00073182	25868377 NP14	PubMed: Shin 2015, Journal: Shin 2015	-	F	-	(Korea, South (Republic))	-	>45y	-	-	-	LGMD	no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236)	2	1	Pieter Klap
00073183	25868377 NP15	PubMed: Shin 2015, Journal: Shin 2015	-	F	-	(Korea, South (Republic))	-	>33y	-	-	-	LGMD	myositis (HP:0100614), Elevated serum creatine phosphokinase (HP:0003236)	2	1	Pieter Klap
00073185	25868377 NP16	PubMed: Shin 2015, Journal: Shin 2015	-	M	-	(Korea, South (Republic))	-	>22y	-	-	-	MMD	myositis (HP:0100614), Elevated serum creatine phosphokinase (HP:0003236)	3	1	Pieter Klap
00073188	25868377 NP18	PubMed: Shin 2015, Journal: Shin 2015	-	F	-	(Korea, South (Republic))	-	>20y	-	-	-	?	myositis (HP:0100614), Elevated serum creatine phosphokinase (HP:0003236)	2	1	Pieter Klap
00073193	25868377 NP19	PubMed: Shin 2015, Journal: Shin 2015	-	M	-	(Korea, South (Republic))	-	>50y	-	-	-	MMD	no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236)	2	1	Pieter Klap
00073194	25868377 NP20	PubMed: Shin 2015, Journal: Shin 2015	-	F	-	(Korea, South (Republic))	-	>43y	-	-	-	MMD	no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236)	2	1	Pieter Klap
00073195	25868377 NP21	PubMed: Shin 2015, Journal: Shin 2015	-	M	-	(Korea, South (Republic))	-	>22y	-	-	-	MMD	no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236)	2	1	Pieter Klap
00073196	25868377 NP22	PubMed: Shin 2015, Journal: Shin 2015	-	F	-	(Korea, South (Republic))	-	>34y	-	-	-	LGMD	no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236)	2	1	Pieter Klap
00073197	25868377 NP23	PubMed: Shin 2015, Journal: Shin 2015	-	M	-	(Korea, South (Republic))	-	>34y	-	-	-	MMD	no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236)	2	1	Pieter Klap
00073198	25868377 NP24	PubMed: Shin 2015, Journal: Shin 2015	-	F	-	(Korea, South (Republic))	-	>40y	-	-	-	LGMD	no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236)	2	1	Pieter Klap
00073199	25868377 NP25	PubMed: Shin 2015, Journal: Shin 2015	-	F	-	(Korea, South (Republic))	-	>26y	-	-	-	LGMD	no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236)	3	1	Pieter Klap
00073200	25868377 NP26	PubMed: Shin 2015, Journal: Shin 2015	-	M	-	(Korea, South (Republic))	-	>21y	-	-	-	?	no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236)	2	1	Pieter Klap
00073201	25868377 NP27	PubMed: Shin 2015, Journal: Shin 2015	-	F	-	(Korea, South (Republic))	-	>37y	-	-	-	LGMD	no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236)	1	1	Pieter Klap
00073202	25868377 NP28	PubMed: Shin 2015, Journal: Shin 2015	-	M	-	(Korea, South (Republic))	-	>38y	-	-	-	?	no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236)	2	1	Pieter Klap
00073203	25868377 NP29	PubMed: Shin 2015, Journal: Shin 2015	-	M	-	(Korea, South (Republic))	-	>28y	-	-	-	LGMD	no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236)	2	1	Pieter Klap
00073204	25868377 NP30	PubMed: Shin 2015, Journal: Shin 2015	-	F	-	(Korea, South (Republic))	-	>38y	-	-	-	MMD	no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236)	2	1	Pieter Klap
00073205	25868377 NP32	PubMed: Shin 2015, Journal: Shin 2015	-	M	-	(Korea, South (Republic))	-	>17y	-	-	-	MMD	no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236)	2	1	Pieter Klap
00073206	23254335 pt.1	PubMed: Zhao 2013, Journal: Zhao 2013	-	F	-	China	-	>26y	-	-	-	MMD	Elevated serum creatine phosphokinase (HP:0003236), no myositis (-HP:0100614), Reduced muscle fiber dysferlin (HP:0030115)	1	1	Pieter Klap
00073296	23254335 pt.2	PubMed: Zhao 2013, Journal: Zhao 2013	-	M	-	China	-	>19y	-	-	-	MMD	Elevated serum creatine phosphokinase (HP:0003236), no myositis (-HP:0100614), Reduced muscle fiber dysferlin (HP:0030115)	1	1	Pieter Klap
00073297	23254335 pt.3	PubMed: Zhao 2013, Journal: Zhao 2013	-	M	-	China	-	>27y	-	-	-	LGMD	Elevated serum creatine phosphokinase (HP:0003236), no myositis (-HP:0100614), Reduced muscle fiber dysferlin (HP:0030115)	1	1	Pieter Klap
00073298	23254335 pt.4	PubMed: Zhao 2013, Journal: Zhao 2013	-	M	-	China	-	>21y	-	-	-	MMD	Elevated serum creatine phosphokinase (HP:0003236), no myositis (-HP:0100614), Reduced muscle fiber dysferlin (HP:0030115)	2	1	Pieter Klap
00073299	23254335 pt.5	PubMed: Zhao 2013, Journal: Zhao 2013	-	M	-	China	-	>19y	-	-	-	LGMD	Elevated serum creatine phosphokinase (HP:0003236), myositis (HP:0100614), Reduced muscle fiber dysferlin (HP:0030115)	1	1	Pieter Klap
00073300	23254335 pt.6	PubMed: Zhao 2013, Journal: Zhao 2013	-	M	-	China	-	>15y	-	-	-	LGMD	Elevated serum creatine phosphokinase (HP:0003236), no myositis (-HP:0100614), Reduced muscle fiber dysferlin (HP:0030115)	1	1	Pieter Klap
00073301	23254335 pt.7	PubMed: Zhao 2013, Journal: Zhao 2013	-	M	-	China	-	>23y	-	-	-	MMD	Elevated serum creatine phosphokinase (HP:0003236), no myositis (-HP:0100614), Reduced muscle fiber dysferlin (HP:0030115)	1	1	Pieter Klap
00073302	23254335 pt.8	PubMed: Zhao 2013, Journal: Zhao 2013	-	F	-	China	-	>43y	-	-	-	?	Elevated serum creatine phosphokinase (HP:0003236), no myositis (-HP:0100614), Reduced muscle fiber dysferlin (HP:0030115)	1	1	Pieter Klap
00073303	23519732 P1	PubMed: Nilsson 2013, Journal: Nilsson 2013	-	F	-	(Canada)	white	>27y	-	-	-	MMD	Proximal muscle weakness (HP:0003701), Elevated serum creatine phosphokinase (HP:0003236), no inflammatory myopathy (-HP:0009071), Lower limb amyotrophy (HP:0007210), proximal muscle weakness (HP:0003701),	2	1	Pieter Klap
00073304	23519732 P2	PubMed: Nilsson 2013, Journal: Nilsson 2013	-	M	-	(Canada)	white	>54y	-	-	-	MMD	Elevated serum creatine phosphokinase (HP:0003236), Lower limb amyotrophy (HP:0007210), Myopathy (HP:0003198), Difficulty walking (HP:0002355),	2	1	Pieter Klap
00073305	20535123 pt.I	PubMed: Santos 2010, Journal: Santos 2010	-	M	no	(Portugal)	-	>34y	-	-	-	?	Difficulty running (HP:0009046), Proximal tetraparesis (HP:0002273), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114),	1	1	Pieter Klap
00073306	20535123 pt.II	PubMed: Santos 2010, Journal: Santos 2010	-	M	no	(Portugal)	-	>48y	-	-	-	?	Lower limb muscle weakness (HP:0007340), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114),	1	1	Pieter Klap
00073307	20535123 pt.III	PubMed: Santos 2010, Journal: Santos 2010	-	M	?	(Portugal)	-	>23y	-	-	-	?	Difficulty running (HP:0009046), Proximal muscle weakness in lower limbs (HP:0008994), Calf muscle pseudohypertrophy (HP:0003707), Elevated serum creatine phosphokinase (HP:0003236), Reduced muscle fiber dysferlin (HP:0030115)	2	1	Pieter Klap
00073630	20535123 pt.IV	PubMed: Santos 2010, Journal: Santos 2010	-	M	yes	(Portugal)	-	>19y	-	-	-	?	Fatigue (HP:0012378), Arrhythmia (HP:0011675), Proximal muscle weakness in lower limbs (HP:0008994), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114),	1	1	Pieter Klap
00073631	20535123 pt.V	PubMed: Santos 2010, Journal: Santos 2010	-	M	yes	(Portugal)	-	>30y	-	-	-	?	Difficulty walking on toes (HP:0001288), Distal lower limb muscle weakness (HP:0009053), Elevated serum creatine phosphokinase (HP:0003236)	1	1	Pieter Klap
00073632	20535123 pt.VI	PubMed: Santos 2010, Journal: Santos 2010	-	M	yes	(Portugal)	-	>25y	-	-	-	?	Difficulty running (HP:0009046), Difficulty climbing stairs (HP:0003551), Proximal muscle weakness in upper limbs (HP:0008997), Proximal muscle weakness in lower limbs (HP:0008994), Lower limb amyotrophy (HP:0007210), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114)	1	1	Pieter Klap
00073634	20535123 pt.VII	PubMed: Santos 2010, Journal: Santos 2010	-	M	yes	(Portugal)	-	>21y	-	-	-	?	Exercise-induced myalgia (HP:0003738), Proximal muscle weakness in lower limbs (HP:0008994), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114)	1	1	Pieter Klap
00073643	19493611 pt.1	PubMed: Liewluck 2009, Journal: Liewluck 2009	-	M	-	Thailand	-	>24y	-	-	-	MMD	Elevated serum creatine phosphokinase (HP:0003236), Difficulty running (HP:0009046), Ring fibers (HP:0100305), Muscle fiber necrosis (HP:0003713)	1	1	Pieter Klap
00073648	19493611 pt.2	PubMed: Liewluck 2009, Journal: Liewluck 2009	-	M	-	Thailand	-	>20y	-	-	-	MMD	-	1	1	Pieter Klap
00073653	19309282 pt.1	PubMed: Bevilacqua 2009, Journal: Bevilacqua 2009	-	M	yes	Chile	-	>32y	-	-	-	MMD	Lower limb amyotrophy (HP:0007210), inability to walk on tip-toes (HP:0004302), Gowers sign (HP:0003391), Areflexia of lower limbs (HP:0002522), Elevated serum creatine phosphokinase (HP:0003236),	1	1	Pieter Klap
00073654	19309282 pt.2	PubMed: Bevilacqua 2009, Journal: Bevilacqua 2009	-	F	no	Chile	-	>29y	-	-	-	?	Difficulty walking (HP:0002355), inability to walk on tip-toes (HP:0004302), Difficulty running (HP:0009046), Difficulty climbing stairs (HP:0003551), Elevated serum creatine phosphokinase (HP:0003236)	2	1	Pieter Klap
00073655	19084402 pt.1	PubMed: Paradas 2009, Journal: Paradas 2009	-	M	no	Spain	white	>05y	-	-	-	?	Motor delay (HP:0001270), Difficulty running (HP:0009046), Difficulty walking (HP:0002355), Difficulty climbing stairs (HP:0003551), Neck flexor weakness (HP:0003722), Pelvic girdle muscle weakness (HP:0003749), Gowers sign (HP:0003391), Elevated serum creatine phosphokinase after age 3 (HP:0003236),	1	1	Pieter Klap
00073656	19084402 pt.2	PubMed: Paradas 2009, Journal: Paradas 2009	-	F	no	Spain	-	>02y	-	-	-	?	Motor delay (HP:0001270), Proximal muscle weakness in lower limbs (HP:0008994), Neck flexor weakness (HP:0003722), Difficulty standing (HP:0003698), Mildly elevated creatine phosphokinase (HP:0008180),	1	1	Pieter Klap
00073658	25574751 pt.1	PubMed: Szymanska 2014, Journal: Szymanska 2014	-	F	-	(Poland)	-	>19y	-	-	-	LGMD	Seizures (HP:0001250), Elevated hepatic transaminases (HP:0002910), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114),	2	1	Pieter Klap
00073659	25591676 F1-297-1-2	PubMed: Xi 2014, Journal: Xi 2014	-	F	-	China	-	>26y	-	-	-	LGMD	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),	1	1	Pieter Klap
00073660	25591676 F1-298-1-2	PubMed: Xi 2014, Journal: Xi 2014	-	F	yes	China	-	>39y	-	-	-	LGMD	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), Absent muscle fiber dysferlin (HP:0030114),	1	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)	1	1	Pieter Klap
00073662	25591676 F1-299-1-1	PubMed: Xi 2014, Journal: Xi 2014	-	M	yes	China	-	>34y	-	-	-	MMD	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),	1	1	Pieter Klap
00073663	25591676 F1-329-1-1	PubMed: Xi 2014, Journal: Xi 2014	-	M	yes	China	-	>35y	-	-	-	MMD	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),	1	1	Pieter Klap
00073666	25591676 F1-301-1-2	PubMed: Xi 2014, Journal: Xi 2014	-	F	-	China	-	>36y	-	-	-	?	no scapular winging (-HP:0003691), able 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)	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),	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),	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),	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),	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),	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),	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),	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),	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)	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),	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),	2	1	Pieter Klap
00073741	25591676 F1-313-1-2	PubMed: Xi 2014, Journal: Xi 2014	-	F	-	China	-	>31y	-	-	-	MMD	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),	2	1	Pieter Klap
00073742	25591676 F1-314-1-1	PubMed: Xi 2014, Journal: Xi 2014	-	M	-	China	-	-	-	-	-	MMD	no scapular winging (-HP:0003691), unable to stand on tiptoes (HP:0004302), Gait disturbance (HP:0001288), Elevated serum creatine phosphokinase (HP:0003236), Reduced muscle fiber dysferlin (HP:0030115)	2	1	Pieter Klap
00073743	25591676 F1-315-1-1	PubMed: Xi 2014, Journal: Xi 2014	-	M	-	China	-	>31y	-	-	-	MMD	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)	2	1	Pieter Klap
00073744	25591676 F1-316-1-2	PubMed: Xi 2014, Journal: Xi 2014	-	F	-	China	-	>39y	-	-	-	MMD	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)	2	1	Pieter Klap
00073745	25591676 F1-317-1-1	PubMed: Xi 2014, Journal: Xi 2014	-	M	-	China	-	>23y	-	-	-	MMD	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)	2	1	Pieter Klap
00073746	25591676 F1-318-1-1	PubMed: Xi 2014, Journal: Xi 2014	-	M	-	China	-	>20y	-	-	-	?	no scapular winging (-HP:0003691), Gait disturbance (HP:0001288), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114)	2	1	Pieter Klap
00073747	25591676 F1-320-1-2	PubMed: Xi 2014, Journal: Xi 2014	-	M	-	China	-	>26y	-	-	-	?	no scapular winging (-HP:0003691), no gait disturbance (-HP:0001288), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114)	2	1	Pieter Klap
00073748	25591676 F1-321-1-1	PubMed: Xi 2014, Journal: Xi 2014	-	M	-	China	-	-	-	-	-	?	no scapular winging (-HP:0003691), no gait disturbance (-HP:0001288), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114)	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)	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),	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)	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)	2	1	Pieter Klap
00074346	-	Fichna ESHG2016 P10.20	-	-	no	Poland	-	-	-	-	-	GDD	-	2	1	Johan den Dunnen

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Global Variome shared LOVD

DYSF (dysferlin, limb girdle muscular dystrophy 2B ...)