All individuals with variants in gene GFPT1

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.

55 entries on 1 page. Showing entries 1 - 55.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00000208	-	PubMed: Sun 2011, Journal: Sun 2011	-	M	no	Netherlands	-	-	-	-	-	CHTE	central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)	2	1	Yu Sun
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)	2	1	Yu Sun
00035928	-	-	-	-	-	Germany	-	-	-	-	-	?	since the ninth year of life myasthenia	1	1	Andreas Laner
00035929	-	-	-	-	-	Germany	-	-	-	-	-	?	CMS, Ptosisrechts > links, Okulomotorik regelrecht, Gliedergürtelbetonung	1	1	Andreas Laner
00035930	-	-	-	-	-	Germany	-	-	-	-	-	?	CMS, Ptosisrechts > links, Okulomotorik regelrecht, Gliedergürtelbetonung	1	1	Andreas Laner
00035931	-	-	-	-	-	Germany	-	-	-	-	-	?	since the ninth year of life myasthenia	1	1	Andreas Laner
00035932	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035933	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035934	-	-	-	-	-	Germany	-	-	-	-	-	?	since the ninth year of life myasthenia	1	1	Andreas Laner
00035935	-	-	-	-	-	Germany	-	-	-	-	-	?	CMS, Ptosisrechts > links, Okulomotorik regelrecht, Gliedergürtelbetonung	1	1	Andreas Laner
00035936	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035937	-	-	-	-	-	Germany	-	-	-	-	-	?	CMS, Ptosisrechts > links, Okulomotorik regelrecht, Gliedergürtelbetonung	1	1	Andreas Laner
00035938	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035939	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035940	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035941	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035942	-	-	-	-	-	Germany	-	-	-	-	-	?	since the ninth year of life myasthenia	1	1	Andreas Laner
00054674	-	PubMed: O'Grady 2016	2-generation family, unaffected heterozygous carrier parents	F	-	Australia	-	>13y	-	-	-	MDC	congenital hypotonia, gross motor delay, mild facial weakness, contractures, scoliosis; EPS consistent with myasthenic syndrome with increased jitter on SFEMG; CPK normal; IHC alphaDG; histology dystrophic	2	1	Sandra Cooper
00205520	-	PubMed: Kunika 2006	-	-	-	Japan	-	-	-	-	-	diabetes	-	1	1	Johan den Dunnen
00205521	-	PubMed: Senderek 2011, OMIM:var0004	7-generation family, 3 affecteds (3M)	M	yes	Iran	-	-	-	-	-	CMS	-	2	3	Johan den Dunnen
00205522	-	PubMed: Senderek 2011	5-generation family, 1 affected	F	yes	Senegal	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00205523	-	PubMed: Senderek 2011	4-generation family, 1 affected	M	yes	Spain	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00205524	-	PubMed: Senderek 2011	2-generation family, 2 affecteds (M, F)	-	no	Spain	-	-	-	-	-	CMS	-	2	2	Johan den Dunnen
00205525	-	PubMed: Senderek 2011	2-generation family, 1 affected	F	no	Germany	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00205526	-	PubMed: Senderek 2011	2-generation family, 3 affecteds (F, 2M)	-	no	Spain	-	-	-	-	-	CMS	-	2	3	Johan den Dunnen
00205527	-	PubMed: Rodolico 2002	2-generation family, 2 affecteds (F, M)	-	no	Italy	-	-	-	-	-	CMS	-	2	2	Johan den Dunnen
00205528	-	PubMed: Senderek 2011, OMIM:var0002	2-generation family, 1 affected	M	no	Sweden	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00205529	-	PubMed: Sieb 1996	5-generation family, 5 affecteds (2F, 3M)	-	yes	Libya	-	-	-	-	-	CMS	-	2	5	Johan den Dunnen
00205530	-	PubMed: Senderek 2011, OMIM:var0003	4-generation family, 1 affected	F	yes	Turkey	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00205531	-	PubMed: Senderek 2011	2-generation family, 1 affected	M	no	Germany	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00205532	-	PubMed: Senderek 2011	2-generation family, 1 affected	M	no	United Kingdom (Great Britain)	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00205533	-	PubMed: Senderek 2011	2-generation family, 1 affected	M	no	United Kingdom (Great Britain)	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00205534	-	PubMed: Weigert 2005	-	-	-	Germany	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00205535	-	PubMed: Kunika 2006	-	-	-	Japan	-	-	-	-	-	diabetes	-	1	1	Johan den Dunnen
00205536	-	PubMed: Kunika 2006	-	-	-	Japan	-	-	-	-	-	diabetes	-	1	1	Johan den Dunnen
00205537	-	PubMed: Kunika 2006	-	-	-	-	white	-	-	-	-	diabetes	-	1	1	Johan den Dunnen
00205538	-	PubMed: Kunika 2006	-	-	-	Japan	-	-	-	-	-	diabetes	-	1	1	Johan den Dunnen
00205539	-	PubMed: Kunika 2006	-	-	-	Japan	-	-	-	-	-	diabetes	-	1	1	Johan den Dunnen
00205540	-	PubMed: Kunika 2006	-	-	-	Japan	-	-	-	-	-	diabetes	-	1	1	Johan den Dunnen
00205541	-	PubMed: Kunika 2006	-	-	-	Japan	-	-	-	-	-	diabetes	-	1	1	Johan den Dunnen
00205542	-	PubMed: Kunika 2006	-	-	-	Japan	-	-	-	-	-	diabetes	-	1	1	Johan den Dunnen
00205543	-	PubMed: Weigert 2005	-	-	-	Germany	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00205544	-	-	-	-	-	United States	African American	-	-	-	-	CMS	-	2	1	Tom Winder
00314324	-	PubMed: Topf 2020	analysis 1001 patients with unexplained limb-girdle weakness	-	-	-	-	-	-	-	-	LGMD	-	1	2	Johan den Dunnen
00398987	P5	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	serum CK <200 U/L; weakness and myasthenic crises	1	1	Johan den Dunnen
00399007	P33	PubMed: Gonzalez-Quereda 2020	patient	F	-	Spain	-	-	-	-	-	NMD	serum CK 112 U/L; limb-girdle muscle weakness	1	1	Johan den Dunnen
00399011	P37	PubMed: Gonzalez-Quereda 2020	patient	F	-	Spain	-	-	-	-	-	NMD	muscle biopsy vacuoles; limb-girdle muscle weakness	1	1	Johan den Dunnen
00413032	FamPatII1/2/3	PubMed: Mensch 2022	2-generation family, 3 affected (F, 2M)	F;M	-	Germany	-	-	-	-	-	CMS	see paper; ...	2	3	Johan den Dunnen
00413130	P73/Myo149	PubMed: Cerino 2022	analysis 82 myopathy patients	-	-	Chile	-	-	-	-	-	MYOP	-	1	1	Johan den Dunnen
00413136	P79/Myo155	PubMed: Cerino 2022	analysis 82 myopathy patients	-	-	Chile	-	-	-	-	-	MYOP	-	1	1	Johan den Dunnen
00472968	Fam9610769Pat65	PubMed: Molaei 2025	analysis 2009 neuromuscular disorder individuals; patient, no family history	M	yes	Iran	-	-	-	-	-	CMS	Bilateral congenital hearing loss; Generalized hypotonia, mild; Progressive muscle weakness; Posetive history for thymectomy	2	1	Johan den Dunnen
00473123	Fam100588Pat254	PubMed: Molaei 2025	analysis 2009 neuromuscular disorder individuals; patient, family history	M	yes	Iran	-	-	-	-	-	CMS	Childhood onset; Frequent falls; Respiratory & Cardiac problems, arrhythmia, mild MR & TR; Generalized muscle weakness & wasting, proximal>distal, lower>upper limbs; Kyphoscoliosis; Abnormal gait; Proximal laxity; Cervical rigid spine; Flat feet, bilateral; Deformed ankle bones; Difficulty walking, running & climbing steps; Thin build; Elevated CPK; Muscle biopsy: tubular aggregate myopathy with rare necrosis/regeneration; EMG-NCV: the one with proximal & distal polymyopathy without irritative feature, the other one in favor of neuromuscular junction instability.	1	1	Johan den Dunnen
00473263	Fam113561Pat476	PubMed: Molaei 2025	analysis 2009 neuromuscular disorder individuals; patient, family history	M	yes	Iran	-	-	-	-	-	CMS	Fatigable weakness; Muscle weakness, proximal>distal, lower>upper; Difficulty climbing steps; Slightly increased CPK; Increased SGPT; EMG-NCV: significant decrement in some tested muscles, compatible with neuromuscular junction transmission disorders.	1	1	Johan den Dunnen
00473396	Fam208334Pat684	PubMed: Molaei 2025	analysis 2009 neuromuscular disorder individuals; patient, no family history	M	yes	Iran	-	-	-	-	-	LGMD	onset 3y, proximal lower and upper muscle weakness, elevated CPK,MUAPS myopathy reported in EMG, mild nonspecific myopathy atrophy reported in muscle biopsy	1	1	Johan den Dunnen
00473795	Fam9701482Pat1263	PubMed: Molaei 2025	analysis 2009 neuromuscular disorder individuals; patient, no family history	F	yes	Iran	-	-	-	-	-	CMS	Delayed head-up & walking; Difficulty climbing steps and rising from seated position; Limb muscles weakness and atrophy; Wheelchair-bound; Pectus carinatum; Long face; Thin & atrophic muscles; VSD; Scoliosis; Limited range of motion in shoulder; Sleep apnea, intermittent; Ptosis, intermittent; Osteoporosis; Breast adenoma. EMG: compatible with neuromuscular junction disorder; Muscle biopsy: atrophic & hypertrophic changes.	1	1	Johan den Dunnen

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Global Variome shared LOVD

GFPT1 (glutamine--fructose-6-phosphate transaminase 1)