All individuals with variants in gene MYOT

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.

130 entries on 2 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2		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
00050575	-	PubMed: DDDS 2015, Journal: DDDS 2015	family, 1 affected	F	-	United Kingdom (Great Britain)	-	-	-	Decipher	-	?	intellectual disability, seizures	1	1	Johan den Dunnen
00207796	-	-	-	M	-	Germany	-	-	-	-	-	-	HP:0010980 (Hyperlipoproteinemia); HP:0001315 (Reduced tendon reflexes); HP:0001513 (Obesity); HP:0003149 (Hyperuricosuria); HP:0000819 (Diabetes mellitus); HP:0004323 (Abnormality of body weight); HP:0100022 (Abnormality of movement); HP:0001252 (Muscular hypotonia); HP:0001265 (Hyporeflexia); HP:0000771 (Gynecomastia); HP:0001288 (Gait disturbance); HP:0001903 (Anemia)	1	1	Andreas Laner
00208036	?	PubMed: Bar 2007	-	-	-	France	Africa (N)	-	-	-	-	MYOP	progressive cardiac and skeletal myopathy	1	1	Johan den Dunnen
00210277	-	PubMed: Godley 1999	-	-	-	Italy	-	-	-	-	-	Healthy/Control	-	1	7	Johan den Dunnen
00210278	-	PubMed: Olive 2005	-	-	-	Spain	-	-	-	-	-	MFM	-	1	1	Johan den Dunnen
00210279	-	PubMed: Goebel 1974	21 affecteds and 5 at-risk large 5-generation family; genome scan 5q31-linked D5S2117	-	-	United States	-	-	-	-	-	MFM	phenotype called SBM (spheroid body myopathy)	1	21	Johan den Dunnen
00210280	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	6	Johan den Dunnen
00210281	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00210282	Pat38	PubMed: Godley 1999	MDL/AML patient	-	-	Italy	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00210283	-	PubMed: Hauser 2002, OMIM:var0002	4 affecteds 3-generation family	-	-	Argentina	-	-	-	-	-	LGMD	raised CPK level (HP:0003236) 5x-15x	1	4	Johan den Dunnen
00210284	Pat6	PubMed: Selcen 2004, OMIM:var0002	affected son and brother	F	-	United States	-	>81y	-	-	-	MFM	cardiomyopathy; no raised CPK level (-HP:0003236) normal	1	2	Johan den Dunnen
00210285	-	PubMed: Olive 2005	3 unrelated sporadic patients	-	-	Spain	-	-	-	-	-	MFM	-	1	3	Johan den Dunnen
00210286	Fam1	PubMed: Olive 2005	8 affected 4 generation family	-	-	Spain	-	-	-	-	-	MFM	raised CPK level (HP:0003236) 2x	1	8	Johan den Dunnen
00210287	-	PubMed: Hauser 2000, OMIM:var0001	large north American family (German descent)	-	-	United States	white	-	-	-	-	LGMD	-	1	1	Johan den Dunnen
00210288	Pat1	PubMed: Selcen 2004, OMIM:var0003	-	F	-	United States	-	>53y	-	-	-	MFM	raised CPK level (HP:0003236) 2x	1	1	Johan den Dunnen
00210289	Pat2	PubMed: Selcen 2004, OMIM:var0003	-	M	-	United States	-	>61y	-	-	-	MFM	raised CPK level (HP:0003236) 2x	1	1	Johan den Dunnen
00210290	Pat3	PubMed: Selcen 2004, OMIM:var0003	-	M	-	United States	-	>76y	-	-	-	MFM	cardiomyopathy; no raised CPK level (-HP:0003236) normal	1	1	Johan den Dunnen
00210291	-	PubMed: Olive 2005	-	-	-	Spain	-	-	-	-	-	MFM	-	1	1	Johan den Dunnen
00210292	Fam2	PubMed: Olive 2005	6 affecteds 5 generation family	F;M	-	Spain	-	-	-	-	-	MFM	cardiomyopathy	1	6	Johan den Dunnen
00210293	Fam3	PubMed: Olive 2005	2 brothers	M	-	Spain	-	>81y	-	-	-	MFM	no raised CPK level (-HP:0003236) normal / ?	1	2	Johan den Dunnen
00210294	Pat4	PubMed: Selcen 2004, OMIM:var0004	-	M	-	United States	-	>80y	-	-	-	MFM	cardiomyopathy; no raised CPK level (-HP:0003236) normal	1	1	Johan den Dunnen
00210295	-	PubMed: Olive 2005	-	-	-	Spain	-	-	-	-	-	MFM	-	1	1	Johan den Dunnen
00210296	-	PubMed: Olive 2005	-	-	-	Spain	-	-	-	-	-	MFM	-	1	1	Johan den Dunnen
00210297	Pat32	PubMed: Godley 1999	MDL/AML patient	-	-	Italy	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00210298	Pat5	PubMed: Selcen 2004, OMIM:var0005	-	M	-	United States	-	>87y	-	-	-	MFM	raised CPK level (HP:0003236) 2x	1	1	Johan den Dunnen
00210299	-	PubMed: Olive 2005	found in relative of MFM patient	-	-	Spain	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00210300	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	6	Johan den Dunnen
00210301	17698502.II3	PubMed: Berciano 2008	uncle of 17698502.III2	M	-	Spain	-	>76y	-	-	-	MFM	late-onset, distal lower-limb weakness; thigh and leg muscle atrophy, gait only with support combining bilateral steppage and waddling; CPK level 1.5x	1	1	Johan den Dunnen
00210302	17698502.III2	PubMed: Berciano 2008	5 generation family; 5 affected (F, 4M), 6 asymptomatic heterozygous carriers ((4F, 2M); niece of 17698502.II3	F	-	Spain	-	>61y	-	-	-	MFM	late-onset, distal lower-limb weakness; electromyography deltoid, quadriceps, tibialis anterior muscles myopathic pattern; CPK level 1.5x	1	11	Johan den Dunnen
00210303	-	PubMed: Berciano 2008	5 generation family, 3 affecteds	-	-	Spain	-	-	-	-	-	MFM	late-onset, distal lower-limb weakness	1	3	Johan den Dunnen
00210304	-	PubMed: Berciano 2008	5 generation family, 6 asymptomatic carriers (63y, 50y, 48y, 38y, 27y, 21y)	-	-	-	-	-	-	-	-	Healthy/Control	asymptomatic	1	6	Johan den Dunnen
00210305	-	PubMed: Olive 2005	-	-	-	Spain	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00210306	-	PubMed: Foroud 2005, OMIM:var0006	-	-	-	United States	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00210308	mouse	PubMed: Garvey 2006	-	-	-	-	-	-	-	-	-	LGMD	progressive myofibrillar pathology, Z-disc streaming, excess myofibrillar vacuolization, plaque-like myofibrillar aggregation (progressively larger, more numerous with age; extensor digitorum longus muscle exhibits significantly reduced maximum specific isometric force (soleus/diaphragm muscles spared)	1	1	Johan den Dunnen
00210309	-	PubMed: Olive 2005	-	-	-	Spain	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00210310	19590214-PatA	PubMed: McNeill 2009	daugther of 19590214-PatAf	F	-	(United Kingdom (Great Britain))	-	>43y	-	-	-	MFM	mild proximal limb weakness, EMG myopathic changes, normal pulmonary function tests and ECG; no raised CPK level (-HP:0003236) normal	1	1	Johan den Dunnen
00210311	19590214-PatAf	PubMed: McNeill 2009	father of 19590214-PatA	M	-	(United Kingdom (Great Britain))	-	-	-	-	-	MFM	distal myopathy	1	1	Johan den Dunnen
00210312	19590214-PatB	PubMed: McNeill 2009	-	F	-	(United Kingdom (Great Britain))	-	>57y	-	-	-	MFM	55y-distal leg weakness, marked weakness foot dorsiflexion/plantarflexion, Achilles tendon contractures, normal PFTs, EMG myopathic changes; CPK level 1.5x	1	1	Johan den Dunnen
00210313	19590214-PatC	PubMed: McNeill 2009	-	F	-	(United Kingdom (Great Britain))	-	>59y	-	-	-	MFM	mild proximal arm/leg weakness, Achilles contractures, weakness long finger flexors; CPK level 1.5x	1	1	Johan den Dunnen
00210314	19590214-PatD	PubMed: McNeill 2009	3-generation family, affected male	M	-	(United Kingdom (Great Britain))	-	>68y	-	-	-	MFM	bilateral weakness finger extensors/foot dorsiflexors/plantarflexors, EMG mixed myopathic/neuropathic changes, PFTs/echocardiogram normal; raised CPK level (HP:0003236) 4x	1	4	Johan den Dunnen
00210315	19590214-PatDb	PubMed: McNeill 2009	brother of 19590214-PatD	M	-	(United Kingdom (Great Britain))	-	-	-	-	-	MFM	distal arm/leg weakness	1	1	Johan den Dunnen
00210316	19590214-PatDc1	PubMed: McNeill 2009	child of 19590214-PatD	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00210317	19590214-PatDc2	PubMed: McNeill 2009	child of 19590214-PatD	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00210318	19590214-PatE	PubMed: McNeill 2009	-	F	-	(United Kingdom (Great Britain))	-	>81y	-	-	-	MFM	81y-proximal weakness arms/legs (MRC 4/5), absent dorsiflexion both feet, weak plantarflexion feet (MRC 2/5), EMG mixed myopathic/neuropathic changes; no raised CPK level (-HP:0003236) normal	1	1	Johan den Dunnen
00210319	19590214-PatF	PubMed: McNeill 2009	-	M	-	(United Kingdom (Great Britain))	-	>66y	-	-	-	MFM	distal lower limb weakness, ankle dorsiflexion/plantarflexion (MRC 1/5), mild proximal weakness, knee flexion, hip adduction (MRC 3/5), ECG normal, PFTs suggested diaphragmatic weakness with forced vital capacity 64% of predicted (sitting)/ 60% (lying); raised CPK level (HP:0003236) 2x	1	1	Johan den Dunnen
00210320	19590214-PatFf	PubMed: McNeill 2009	father of 19590214-PatF	M	-	(United Kingdom (Great Britain))	-	-	-	-	-	MFM	late-onset muscle weakness, wheelchair bound 64y	1	1	Johan den Dunnen
00210321	19590214-PatG	PubMed: McNeill 2009	-	F	-	(United Kingdom (Great Britain))	-	>67y	-	-	-	MFM	67y-mild weakness wrist extension (MRC 4/5)/elbow flexion (MRC 4/5), marked weakness foot dorsiflexion/plantarflexion bilaterally (MRC 2ñ3/5)ECG/PFTs normal, EMG mixed myopathic/neuropathic picture; no raised CPK level (-HP:0003236) normal	1	1	Johan den Dunnen
00210322	19590214-PatH	PubMed: McNeill 2009	mother difficulty walking mid-60s	M	-	(United Kingdom (Great Britain))	-	>85y	-	-	-	MFM	85y-weak wrist extension (MRC 4/5)/foot dorsiflexion (MRC 1/5), ECG/PFTs normal, EMG mixed myopathic/neuropathic picture; CPK level 1.5-2x	1	1	Johan den Dunnen
00210323	19458539-Pat1	PubMed: Shalaby 2009	-	F	-	Japan	-	-	-	-	-	LGMD	progressive muscle weakness, 50y-difficulty walk long distances, not able to stand up/climb stairs without support, 57y-proximal dominant muscle weakness, esp. neck flexors, iliopsoas, hamstring, quadriceps muscles, facial muscle weakness, waddling gait, decreased deep tendon reflexes	1	1	Johan den Dunnen
00210324	19458539-Pat1f	PubMed: Shalaby 2009	father of 19458539-Pat1	M	-	Japan	-	-	-	-	-	LGMD	-	1	1	Johan den Dunnen
00210325	19458539-Pat1s	PubMed: Shalaby 2009	elder sister of 19458539-Pat1	F	-	Japan	-	-	-	-	-	LGMD	original diagnosis sporadic inclusion body myositis; raised CPK level (HP:0003236) >2x	1	1	Johan den Dunnen
00210326	19027924-Pat1	PubMed: Gamez 2009	-	M	-	Spain	-	-	-	-	-	MFM	generalized muscle pseudo-hypertrophy, stiffness; 53y-slowly progressive gait difficulty, muscule weakness lower limbs/less upper extremities, muscle pain, stiffness when walking, unable to walk >20m without rest, severe difficulty climbing/descending stairs, rising from chair, getting in/out vehicles; no raised CPK level (-HP:0003236) normal	1	1	Johan den Dunnen
00210327	19027924-Pat1f	PubMed: Gamez 2009	father of 19027924-Pat1	M	-	Spain	-	71y	-	-	-	MFM	gait disorder similar to son	1	1	Johan den Dunnen
00210328	19027924-Pat1b	PubMed: Gamez 2009	brother of 19027924-Pat1	M	-	Spain	-	-	-	-	-	MFM	52y-acute myocardial infarction; 55y-Herculean appearance, normal muscle strength/nerve conduction, EMG myopathicdeltoid, vastus medialis, rectus femoris, tibialis anterior muscles without complex repetitive discharges.	1	1	Johan den Dunnen
00210329	19027924-Pat1a	PubMed: Gamez 2009	aunt of 19027924-Pat1	F	-	Spain	-	-	-	-	-	MFM	EMG myopathy	1	1	Johan den Dunnen
00210330	18653338-Pat18	PubMed: Claeys 2008	-	M	-	-	-	>71y	-	-	-	MFM	see paper; …	2	1	Johan den Dunnen
00210331	18653338-Pat19	PubMed: Claeys 2008	-	M	-	-	-	>62y	-	-	-	MFM	see paper; …	2	1	Johan den Dunnen
00210332	16793270-Fam	see also PubMed: Penisson-Besniers 1998	3-generation family, 4 affecteds, 2 asymptomatic carriers	-	-	France	-	-	-	-	-	MFM	CPK level 1-2x	1	6	Johan den Dunnen
00210333	-	-	-	M	-	United States	white	-	-	-	-	LGMD	proximal and distal weakenss (LE>UE); facial weakness; raised CPK level (HP:0003236)	1	1	Tom Winder
00210334	-	-	-	-	-	United States	-	-	-	-	-	LGMD	limb girdle weakness	1	1	Tom Winder
00210335	Emory-?	-	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00210336	Emory-?	-	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00210337	Emory-?	-	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00210338	Emory-?	-	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00210339	Emory-?	-	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00210340	Emory-?	-	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00210341	Emory-?	-	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00210370	21336781	PubMed: Reilich 2011	-	F	-	Turkey	-	-	-	-	-	LGMD	see paper; ...	1	1	Johan den Dunnen
00219534	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219606	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219657	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	2	1	Madhuri Hegde
00219697	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219699	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219708	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219780	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219795	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219806	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219876	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219971	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219986	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220060	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	2	1	Madhuri Hegde
00220143	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220147	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220165	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220223	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220270	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220305	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220360	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220481	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	2	1	Madhuri Hegde
00220845	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220939	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220949	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221194	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221386	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221399	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221438	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221478	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221546	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221667	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221707	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde

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Global Variome shared LOVD

MYOT (myotilin)