Disease #02795 (LGMDR10;LGMD2J (dystrophy, muscular, limb-girdle, autosomal recessive, type 10 (LGMD2J)), OMIM:608807)

Official abbreviation	LGMDR10;LGMD2J
Name	dystrophy, muscular, limb-girdle, autosomal recessive, type 10 (LGMD2J)
OMIM ID	608807
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	40
Phenotype entries for this disease	38
Associated with 1 gene	TTN
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2024-01-12 20:53:00 +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
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Algeria
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American Samoa
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Andorra
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Angola
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Bermuda
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Botswana
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Bouvet Island
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Brazil
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British Indian Ocean Territory
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Brunei Darussalam
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Bulgaria
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Burkina Faso
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Burundi
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Cambodia
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Cameroon
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Canada
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Cape Verde
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Cayman Islands
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Central African Republic
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Central Europe
Chad
(Chad)
Chile
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China
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Christmas Island
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Cocos (Keeling Islands)
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Colombia
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Comoros
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Congo
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Cook Islands
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Costa Rica
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Cote D'Ivoire (Ivory Coast)
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Croatia (Hrvatska)
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Cuba
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Cyprus
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Estonia
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France
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Gambia
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Georgia
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Germany
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Ghana
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Guam
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Guatemala
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Guiana, French
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Guinea
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Guinea-Bissau
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Guyana
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Honduras
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Hungary
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Italy
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Japan
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Jordan
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Kazakhstan
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Kenya
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Kiribati
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Korea
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Korea, North (People's Republic)
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Korea, South (Republic)
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Kosovo
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Kuwait
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Kyrgyzstan (Kyrgyz Republic)
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Laos
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Latvia
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Lesotho
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Lithuania
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Macedonia
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Madagascar
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Malawi
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Malaysia
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Panama
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Paraguay
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Peru
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Philippines
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Poland
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Polynesia, French
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Portugal
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Puerto Rico
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Qatar
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Reunion
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Romania
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Russia
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Russian Federation
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Rwanda
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S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
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Saint Lucia
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Saint Vincent and The Grenadines
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Samoa
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San Marino
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Sao Tome and Principe
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Saudi Arabia
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Scotland
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Senegal
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Serbia
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Seychelles
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Sierra Leone
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Singapore
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Slovakia (Slovak Republic)
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Slovenia
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Solomon Islands
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Southern Territories, French
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Soviet Union (former)
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Spain
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Sri Lanka
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St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
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Sudan
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Sudan, South
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Suriname
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Svalbard and Jan Mayen Islands
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Swaziland
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Sweden
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Switzerland
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Syria
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Taiwan
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Tajikistan
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Tanzania
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Thailand
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Togo
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Tokelau
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Tonga
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Trinidad and Tobago
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Tunisia
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Turkey
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Turkmenistan
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Turks and Caicos Islands
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Tuvalu
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Uganda
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Ukraine
(Ukraine)
United Arab Emirates
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United Kingdom (Great Britain)
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United States
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Uruguay
(Uruguay)
US Minor Outlying Islands
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Uzbekistan
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Vanuatu
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Vatican City State (Holy See)
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Venezuela
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Viet Nam
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Virgin Islands (British)
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Virgin Islands (US)
(Virgin Islands (US))
Wales
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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

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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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Example	Matches
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40 entries on 1 page. Showing entries 1 - 40.

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
00057949	-	-	3 affecteds, homozygous	-	?	Finland	-	-	-	-	-	LGMDR10;LGMD2J	severe TMD; IHC no M8/M9-TTN epitopes but A169/A170 normal, CAPN3 severly reduced	TTN	TTN	4	3	Johan den Dunnen
00058350	-	-	-	-	-	Finland	-	-	-	-	-	LGMDR10;LGMD2J	-	TTN	TTN	1	1	Johan den Dunnen
00058351	-	-	-	-	-	Finland	-	-	-	-	-	LGMDR10;LGMD2J	-	TTN	TTN	1	1	Johan den Dunnen
00058352	-	-	-	-	-	Finland	-	-	-	-	-	LGMDR10;LGMD2J	-	TTN	TTN	1	1	Johan den Dunnen
00058353	-	-	-	-	-	Finland	-	-	-	-	-	LGMDR10;LGMD2J	-	TTN	TTN	1	1	Johan den Dunnen
00087088	-	PubMed: Peric 2017, Journal: Peric 2017	-	F	-	Serbia	Serbian	-	-	-	-	LGMDR10;LGMD2J	Distal muscle weakness	-	TTN	2	1	Ana Topf
00087240	-	PubMed: Peric 2017, Journal: Peric 2017	-	F	yes	Serbia	Serbian	-	-	-	-	LGMDR10;LGMD2J	-	-	TTN	1	1	Ana Topf
00087241	-	PubMed: Peric 2017, Journal: Peric 2017	-	M	-	Serbia	Serbian	-	-	-	-	LGMDR10;LGMD2J	-	-	TTN	2	1	Ana Topf
00087243	-	PubMed: Peric 2017, Journal: Peric 2017	-	M	-	Serbia	Serbian	-	-	-	-	LGMDR10;LGMD2J	-	-	TTN	2	1	Ana Topf
00087244	-	PubMed: Peric 2017, Journal: Peric 2017	-	M	-	Serbia	Serbian	-	-	-	-	LGMDR10;LGMD2J	-	-	TTN	1	1	Ana Topf
00087245	-	PubMed: Peric 2017, Journal: Peric 2017	-	F	-	Serbia	Serbian	-	-	-	-	LGMDR10;LGMD2J	-	-	TTN	2	1	Ana Topf
00087247	-	PubMed: Peric 2017, Journal: Peric 2017	-	F	-	Serbia	Serbian	-	-	-	-	LGMDR10;LGMD2J	-	-	TTN	2	1	Ana Topf
00087248	-	PubMed: Peric 2017, Journal: Peric 2017	-	M	-	Serbia	Serbian	-	-	-	-	LGMDR10;LGMD2J	-	-	TTN	2	1	Ana Topf
00087250	-	PubMed: Peric 2017, Journal: Peric 2017	-	M	-	Serbia	Serbian	-	-	-	-	LGMDR10;LGMD2J	-	-	TTN	2	1	Ana Topf
00087251	-	PubMed: Peric 2017, Journal: Peric 2017	-	F	-	Serbia	Serbian	-	-	-	-	LGMDR10;LGMD2J	-	-	TTN	2	1	Ana Topf
00087252	-	PubMed: Peric 2017, Journal: Peric 2017	-	F	-	Serbia	Serbian	-	-	-	-	LGMDR10;LGMD2J	-	-	TTN	2	1	Ana Topf
00087253	-	PubMed: Peric 2017, Journal: Peric 2017	-	F	-	Serbia	Serbian	-	-	-	-	LGMDR10;LGMD2J	-	-	TTN	1	1	Ana Topf
00087254	-	PubMed: Peric 2017, Journal: Peric 2017	-	M	-	Serbia	Serbian	-	-	-	-	LGMDR10;LGMD2J	-	-	TTN	2	1	Ana Topf
00087255	-	PubMed: Peric 2017, Journal: Peric 2017	-	F	-	Serbia	Serbian	-	-	-	-	LGMDR10;LGMD2J	-	-	TTN	2	1	Ana Topf
00213109	patient 3	submitted	-	M	no	Spain	-	-	-	-	-	LGMDR10;LGMD2J	HP:0003560, HP:0003701, HP:0002460, HP:0003458, HP:0000007, HP:0003236, HP:0001638	TTN	TTN	2	1	Ruiz Palomino Pilar
00299633	-	-	-	F	no	Finland	-	>41y	-	-	-	LGMDR10;LGMD2J	-	-	TTN	2	1	Marco Savarese
00299634	-	-	-	F	no	Spain	-	>45y	-	-	-	LGMDR10;LGMD2J	Childhood/early-adult onset distal myopathy	-	TTN	1	2	Marco Savarese
00299635	-	-	-	F	?	Spain	-	>55y	-	-	-	LGMDR10;LGMD2J	Childhood/early-adult onset distal myopathy	-	TTN	2	1	Marco Savarese
00299636	-	-	-	M	no	Spain	-	>49y	-	-	-	LGMDR10;LGMD2J	Childhood/early-adult onset distal myopathy	-	TTN	2	2	Marco Savarese
00299637	-	-	-	F	-	France	-	-	-	-	-	LGMDR10;LGMD2J	Childhood/early-adult onset distal myopathy	-	TTN	2	1	Marco Savarese
00300173	-	-	-	F	no	Serbia	-	>42y	-	-	-	LGMDR10;LGMD2J	Childhood/early-adult onset distal myopathy	-	TTN	2	1	Marco Savarese
00300174	-	-	-	F	no	-	-	>36y	-	-	-	LGMDR10;LGMD2J	Childhood/early-adult onset distal myopathy	-	TTN	2	1	Marco Savarese
00300175	-	-	-	M	no	Spain	-	>47y	-	-	-	LGMDR10;LGMD2J	Childhood/early-adult onset distal myopathy	-	TTN	2	1	Marco Savarese
00300176	-	-	-	M	no	Italy	-	>60y	-	-	-	LGMDR10;LGMD2J	Childhood/early-adult onset distal myopathy	-	TTN	2	1	Marco Savarese
00300177	-	-	-	M	no	China	-	>19y	-	-	-	LGMDR10;LGMD2J	hyperCKemia	-	TTN	2	2	Marco Savarese
00332316	-	-	-	-	-	France	-	-	-	-	-	LGMDR10;LGMD2J	Limb-girdle muscular dystrophy HP:0006785	-	TTN	2	1	Svetlana Gorokhova
00380795	?	PubMed: Nair 2018	-	?	-	Lebanon	-	-	-	-	-	LGMDR10;LGMD2J	delayed motor development; muscular hypotonia; lactic acidosis (Neurological)	-	TTN	2	1	LOVD
00466383	-	Pending	-	M	-	France	-	-	-	-	-	LGMDR10;LGMD2J	EMG abnormality, Myopathy, Coarctation of aorta, Dystal arthrogryposis, Congenital shortened small intestine	-	TTN	2	1	Camille Verebi
00466398	-	Pending	-	M	-	France	-	-	-	-	-	LGMDR10;LGMD2J	Muscular ventricular septal defect * Arthrogryposis multiplex congenita * Generalized hypotonia * Cryptorchidism * Failure to thrive * Camptodactyly * Delayed speech and language development	-	TTN	2	1	Camille Verebi
00466412	-	Pending	-	F	-	France	-	-	-	-	-	LGMDR10;LGMD2J	Waddling gait, Proximal muscle weakness in lower limbs, Elevated serum creatine kinase, Muscular dystrophy	-	TTN	1	1	Camille Verebi
00472204	-	Verebi et al. (submitted)	-	M	-	France	-	-	-	-	-	LGMDR10;LGMD2J	Muscular hypotonia	-	TTN	2	1	Camille Verebi
00472237	-	Verebi et al. (submitted)	-	F	-	France	-	-	-	-	-	LGMDR10;LGMD2J	Antenatal onset * Neonatal hypotonia Motor delay * Minicore myopathy * Atrial septal defect * Scoliosis * Mildly elevated creatine kinase * Cardiomyopathy	-	TTN	2	1	Camille Verebi
00472267	-	Verebi et al. (submitted)	-	M	-	France	-	-	-	-	-	LGMDR10;LGMD2J	0001644: Dilated cardiomyopathy, 0003325: Muscle weakness of the girdles, 0006785: Muscular dystrophy of the girdles	-	TTN	2	1	Camille Verebi
00472268	-	Verebi et al. (submitted)	-	F	-	France	-	-	-	-	-	LGMDR10;LGMD2J	0002349: Simple partial seizure, 0001319: Neonatal hypotonia, 0030799: Scaphocephaly, 0001357: Plagiocephaly, 0000316: Hypertelorism, 0002650: Scoliosis, 0001618: Dysphonia, 0003398: Neuromuscular junction abnormality	-	TTN	2	1	Camille Verebi
00472269	-	Verebi et al. (submitted)	-	F	-	France	-	-	-	-	-	LGMDR10;LGMD2J	0003325: Muscle weakness in the girdles, 0003690: Muscle weakness in the limbs, 0002804: Congenital multiple arthrogryposis	-	TTN	1	1	Camille Verebi

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How to query

Global Variome shared LOVD

FGD1 (FYVE, RhoGEF and PH domain containing 1)