Disease #01273 (hCK (hyperCKemia (hCK, elevated serum creatine phosphokinase)), OMIM:123320)

Official abbreviation	hCK
Name	hyperCKemia (hCK, elevated serum creatine phosphokinase)
OMIM ID	123320
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	159
Phenotype entries for this disease	207
Associated with 2 genes	CAV3, DMD
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

Individuals

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

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

Remarks: remarks about the individual

Gender: gender individual
All options:

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

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

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

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

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(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.

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

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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
00078801	-	PubMed: Witting 2012	2-generation family, affected male	M	-	Denmark	-	-	-	-	-	hCK	left facial palsy caused by a schwannoma; no muscle wasting/weakness; 15y-myopathy, central nuclei, increased variability, regenerating fibers, no necrotic fibers fiber size; raised CPK (HP:0003236) 2700-25000; >17y walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078802	-	PubMed: Witting 2012	2-generation family, affected sister	F	-	Denmark	-	-	-	-	-	hCK	no muscle/bone abnormalities; raised CPK (HP:0003236) 555-2990; >14y walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078814	-	PubMed: Wahbi 2012	-	M	-	France	-	-	-	-	-	hCK	raised CPK (HP:0003236) 4000; >39y walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078821	-	PubMed: Wahbi 2012	-	M	-	France	-	-	-	-	-	hCK	raised CPK (HP:0003236) 3138; >21y walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078822	-	PubMed: Wahbi 2012	-	M	-	France	-	-	-	-	-	hCK	raised CPK (HP:0003236) 4145; >34y walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078829	-	PubMed: Wahbi 2012	-	M	-	France	-	-	-	-	-	hCK	raised CPK (HP:0003236) 3131; >42y walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078830	-	PubMed: Wahbi 2012	-	F	-	France	-	-	-	-	-	hCK	raised CPK (HP:0003236) 4898; >47y walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078836	-	PubMed: Sarkozy 2012	-	M	-	France	-	-	-	-	-	hCK	raised CPK (HP:0003236) 4000; >39y walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078839	-	PubMed: Sarkozy 2012	-	F	-	Germany	-	-	-	-	-	hCK	raised CPK (HP:0003236) 3300-5400; >19y walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078845	-	PubMed: Penttila 2012	-	F	-	Finland	-	-	-	-	-	hCK	raised CPK (HP:0003236) 3000-4000	ANO5	ANO5	2	1	Johan den Dunnen
00078846	-	PubMed: Penttila 2012	-	F	-	Finland	-	-	-	-	-	hCK	raised CPK (HP:0003236) 3000-4000	ANO5	ANO5	2	1	Johan den Dunnen
00078862	-	PubMed: Schessl 2012	-	M	-	Germany	-	-	-	-	-	hCK	no muscle weakness, atrophy, no caridaic/pulmonary involvement; MRI muscle fatty degeneration; raised CPK (HP:0003236) 3442 U/l; >38y walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078868	-	PubMed: Magrib 2012	3-generation family, 2 affecteds, unaffecteds carrier parents and sibs	F	no	Italy	-	-	-	-	-	hCK	no atrophy, no muscle weakness, no calf pseudo hypertrophy, no cramps, no myalgia, no myoglobinuria, no cardiac involvement, no respiratory involvement; EMG ?; raised CPK (HP:0003236) 3x; >47y walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00108215	-	PubMed: Fulizio, OMIM:var0005	4 affecteds	M	-	Italy	-	-	-	-	-	hCK	myopathyathy;hCK; CPK 891	CAV3	CAV3	1	4	Johan den Dunnen
00108227	-	PubMed: Reijneveld 2006	-	?	-	Netherlands	-	-	-	-	-	hCK	-	CAV3	CAV3	1	1	Johan den Dunnen
00108229	-	PubMed: Alias	mother and brother carrier; discovered from routine blood test	?	-	Spain	-	-	-	-	-	hCK	persistent highCK levels; CPK 981 (mother 1968)	CAV3	CAV3	1	3	Johan den Dunnen
00108232	-	-	-	?	-	France	-	-	-	-	-	hCK	cramps, stiffness and myalgia	CAV3	CAV3	1	1	Nicolas Levy
00108242	-	PubMed: Reijneveld 2006	-	?	-	Netherlands	-	-	-	-	-	hCK	-	CAV3	CAV3	1	1	Johan den Dunnen
00108246	-	-	carrier father has isolated hCK	?	-	France	-	-	-	-	-	hCK	cramps, stiffness and weakness	CAV3	CAV3	1	1	Nicolas Levy
00108253	-	PubMed: Carbone, OMIM:var0007	-	M	-	Italy	-	-	-	-	-	hCK	CPK ~1060	CAV3	CAV3	1	1	Johan den Dunnen
00108259	-	PubMed: Carbone, OMIM:var0007	-	F	-	Italy	-	-	-	-	-	hCK	CPK ~630	CAV3	CAV3	1	1	Johan den Dunnen
00108262	-	PubMed: Fulizio, OMIM:var0007	mother carrier	M	-	Italy	-	-	-	-	-	hCK	CPK 8500	CAV3	CAV3	1	2	Johan den Dunnen
00108267	-	PubMed: Merlini, PubMed: Capanni, OMIM:var0012	mother and son	M;F	-	Italy	-	-	-	-	-	hCK	no muscle weakness; CPK 2600;550	CAV3	CAV3	1	2	Johan den Dunnen
00108280	-	Politano et al., Neuromuscul.Disord. 12: 733	-	-	-	-	-	-	-	-	-	hCK	-	CAPN3, CAV3	CAPN3, CAV3	2	1	Johan den Dunnen
00108346	-	PubMed: Traverso 2008	3-generation family, 4 affecteds (1 unafected homozygous carrier)	M	-	Italy	-	40y	-	-	-	hCK	CPK 900IU/l	CAV3	CAV3	1	4	Johan den Dunnen
00108442	-	PubMed: Traverso 2008	father 18487559-Pat1	M	-	Italy	-	-	-	-	-	hCK	calf hypertrophy	CAV3	CAV3	1	1	Johan den Dunnen
00133369	-	PubMed: Mongini	-	M	-	Italy	-	-	-	-	-	hCK	easy fatigability; 500-1500 elevated CPK (HP:0003236)	SGCA	SGCA	2	1	Johan den Dunnen
00133394	-	PubMed: Carrie 1997	-	F	no	France	-	>54y	-	-	-	hCK	benign; recurrent myositis-like episodes, weakness complaints; raised CPK (HP:0003236)	SGCA	SGCA	2	1	Johan den Dunnen
00133395	-	PubMed: Carrie 1997	raised serum transaminase	F	-	Morocco	-	-	-	-	-	hCK	benign; tiredness; 700-2000 elevated CPK (HP:0003236)	SGCA	SGCA	2	1	Johan den Dunnen
00133512	-	-	-	M	?	Italy	-	-	-	-	-	hCK	-	SGCA	SGCA	2	1	Marina Fanin
00133514	-	-	-	F	?	(Italy)	white	-	-	-	-	hCK	-	SGCA	SGCA	1	1	Marina Fanin
00133595	-	Politano et al., Neuromuscul.Disord. 12: 733	-	-	-	-	-	-	-	-	-	hCK	-	SGCA	SGCB	1	2	Johan den Dunnen
00134011	-	-	-	F	-	(Italy)	white	-	-	-	-	hCK	-	SGCG	SGCG	1	1	Marina Fanin
00136261	-	PubMed: Gospe	-	M	-	-	-	-	-	-	-	hCK	X-linked myalgia and cramps, calf hypertrophy, no muscular weakness	DMD	DMD	1	9	Johan den Dunnen
00136912	-	PubMed: Comi	analysis 59 BMD cases	M	-	Italy	-	-	-	-	-	hCK	-	DMD	DMD	1	1	Johan den Dunnen
00137023	-	PubMed: Saengpattrachai 2006	3-generation family, carrier unaffected grandfather, 4 carrier daugthers and affected and asymptomatic grandson 16876015.III2	M	-	(Canada)	-	-	-	-	-	hCK	elevated serum CPK (HP:0003236) 2950	DMD	DMD	1	1	Johan den Dunnen
00137917	-	PubMed: Comi	analysis 59 BMD cases	M	-	Italy	-	-	-	-	-	hCK	-	DMD	DMD	1	1	Johan den Dunnen
00141243	-	-	-	F	-	Australia	-	-	-	-	-	hCK	no muscle symptoms; elevated serum CPK (HP:0003236) 400-500 IU	DMD	DMD	1	1	Peter Taylor
00141341	-	Novakovic, ICHG2001#P1500 - {DBSubm00141}	-	M	-	Yugoslavia	-	-	-	-	-	hCK	-	DMD	DMD	1	1	L. Lukovic
00142386	-	Bovolenta, in press	-	M	-	Italy	-	-	-	-	-	hCK	-	DMD	DMD	1	1	Alessandra Ferlini
00142422	-	-	-	M	-	Italy	-	-	-	-	-	hCK	-	DMD	DMD	1	1	Alessandra Ferlini
00142478	-	-	-	M	-	Italy	-	-	-	-	-	hCK	-	DMD	DMD	1	1	Alessandra Ferlini
00142479	-	-	-	M	-	Italy	-	-	-	-	-	hCK	-	DMD	DMD	1	1	Alessandra Ferlini
00142503	-	PubMed: Wein 2014	-	M	no	Italy	-	-	-	-	-	hCK	met early motor milestones, no muscular dystrophy; 15y-neurological examination entirely normal, muscle biopsy showed slight fiber size variability, in some sections increased number of central nuclei, along with some densely stained hypercontracted fibers; elevated serum CPK (HP:0003236) 550 IU/l; normal motor ability; unknown loss ability to walk (?HP:0006957) >15y	DMD	DMD	1	1	Alessandra Ferlini
00142515	-	-	-	F	-	Italy	-	-	-	-	-	hCK	-	DMD	DMD	1	1	Alessandra Ferlini
00142529	-	-	-	M	-	Italy	-	-	-	-	-	hCK	-	DMD	DMD	1	1	Alessandra Ferlini
00142565	-	-	-	M	-	Italy	-	-	-	-	-	hCK	-	DMD	DMD	1	1	Alessandra Ferlini
00142595	-	-	-	M	-	Italy	-	-	-	-	-	hCK	-	DMD	DMD	1	1	Alessandra Ferlini
00142603	-	-	-	M	-	Italy	-	-	-	-	-	hCK	-	DMD	DMD	1	1	Alessandra Ferlini
00142614	-	-	-	F	-	Italy	-	-	-	-	-	hCK	-	DMD	DMD	1	1	Alessandra Ferlini
00142616	-	-	-	F	-	Italy	-	-	-	-	-	hCK	-	DMD	DMD	1	1	Alessandra Ferlini
00142621	-	-	-	M	-	Italy	-	-	-	-	-	hCK	-	DMD	DMD	1	1	Alessandra Ferlini
00142644	-	-	-	M	-	Italy	-	-	-	-	-	hCK	-	DMD	DMD	1	1	Alessandra Ferlini
00142645	-	-	-	F	-	Italy	-	-	-	-	-	hCK	-	DMD	DMD	1	1	Alessandra Ferlini
00142683	-	-	-	M	-	Italy	-	-	-	-	-	hCK	-	DMD	DMD	1	1	Alessandra Ferlini
00142709	-	PubMed: Gualandi 2009, Bovolenta, in press	Pat21	M	-	Italy	-	-	-	-	-	hCK	unknown loss ability to walk (?HP:0006957) >18y	DMD	DMD	1	1	Alessandra Ferlini
00142710	-	-	-	M	-	Italy	-	-	-	-	-	hCK	-	DMD	DMD	1	1	Alessandra Ferlini
00142997	-	-	-	M	-	Yugoslavia	-	-	-	-	-	hCK	-	DMD	DMD	1	1	Jovan Pesović
00142999	-	-	-	M	-	Yugoslavia	-	-	-	-	-	hCK	-	DMD	DMD	1	1	Jovan Pesović
00146565	N3133	Politano et al., Neuromuscul.Disord. 12: 733	-	-	-	-	-	-	-	-	-	hCK	-	FKRP	FKRP	1	1	Johan den Dunnen
00146757	N2014	Politano et al., Neuromuscul.Disord. 12: 733	-	-	-	-	-	-	-	-	-	hCK	-	FKRP	FKRP	1	1	Johan den Dunnen
00150148	26539891-FamHOU2231PatBAB5866	PubMed: Karaca 2015	2-generation family, 2 affected brothers, unaffected heterozygous carrier parents	M	-	Turkey	-	-	-	-	-	hCK, SLOS	intellectual diability, microcephaly, short CC, bicusbid aortic valve, prominently elevated muscle enzymes (creatine kinase >10,000 U/l)	DHCR7	DHCR7, DMD	2	2	Johan den Dunnen
00155015	private email	-	2-generation family, 2 brothers, carrier mother	M	-	United States	-	-	-	-	-	hCK	no BMD/DMD symptoms, elevated CK (1,000-3,000), DNA analysis mother showed deletion	DMD	DMD	1	2	Johan den Dunnen
00164512	CASE_0244	PubMed: Toksoy 2019	singleton patient, no family history, mother not a carrier	F	-	Turkey	-	>02y	-	-	-	hCK	-	DMD	DMD	1	1	Güven Toksoy
00213689	-	PubMed: Krahn 2006, OMIM:var0006	-	F	-	Spain	-	-	-	-	-	hCK	CPK elevated (HP:0003236) 10000	CAPN3	CAPN3	2	1	Johan den Dunnen
00213862	-	PubMed: Fanin 2004, PubMed: Fanin 2005, PubMed: Nascimbeni 2010, OMIM:var0009	-	F	-	Italy	-	-	-	-	-	hCK	asymptomatic	CAPN3	CAPN3	2	1	Marina Fanin
00213899	-	Politano et al., Neuromuscul.Disord. 12: 733	-	-	-	-	-	-	-	-	-	hCK	-	CAPN3	CAPN3	1	2	Johan den Dunnen
00213930	-	Politano et al., Neuromuscul.Disord. 12: 733	-	-	-	-	-	-	-	-	-	hCK	-	CAPN3	CAPN3	1	1	Johan den Dunnen
00213971	1324/20635405-Pat	PubMed: Fanin 2004, PubMed: Fanin 2005, PubMed: Nascimbeni 2010	patient fron one region (Veneto)	F	-	Italy	-	-	-	-	-	hCK	asymptomatic	CAPN3	CAPN3	2	1	Marina Fanin
00213991	-	Politano et al., Neuromuscul.Disord. 12: 733	-	-	-	-	-	-	-	-	-	hCK	-	CAPN3	CAPN3	1	1	Johan den Dunnen
00213992	-	PubMed: Fanin 2005 + PubMed: Piluso 2005	-	M	-	Argentina	-	-	-	-	-	hCK	young, asymptomatic	CAPN3	CAPN3	1	1	Marina Fanin
00213994	-	PubMed: Piluso 2005	-	M	-	Italy	-	-	-	-	-	hCK	-	CAPN3	CAPN3	1	1	Johan den Dunnen
00213998	2522/20635405-Pat	PubMed: Fanin 2004, PubMed: Nascimbeni 2010	-	M	-	Italy	-	-	-	-	-	hCK	young, asymptomatic	CAPN3	CAPN3	2	1	Marina Fanin
00214009	-	PubMed: Fanin 2004	-	M	-	Italy	-	-	-	-	-	hCK	young, asymptomatic	CAPN3	CAPN3	1	1	Marina Fanin
00214021	-	PubMed: Piluso 2005	-	M	-	Italy	-	-	-	-	-	hCK	-	CAPN3	CAPN3	1	1	Johan den Dunnen
00214024	-	PubMed: Piluso 2005	-	M	-	Italy	-	-	-	-	-	hCK	-	CAPN3	CAPN3	1	1	Johan den Dunnen
00214027	-	PubMed: Piluso 2005	-	M	-	Italy	-	-	-	-	-	hCK	-	CAPN3	CAPN3	1	1	Johan den Dunnen
00214029	-	PubMed: Piluso 2005	-	F	-	Italy	-	-	-	-	-	hCK	-	CAPN3	CAPN3	1	1	Johan den Dunnen
00214038	-	-	-	-	-	Italy	-	-	-	-	-	hCK	-	CAPN3	CAPN3	1	1	Marina Fanin
00214069	Pat19	PubMed: Todorova 2007	-	F	-	Bulgaria	-	>8y	-	-	-	hCK	asymptomatic; CPK elevated (HP:0003236) 11000; still able to walk (-HP:0006957) ; still able to walk (-HP:0006957)	CAPN3	CAPN3	1	1	Johan den Dunnen
00214146	-	PubMed: Fanin 2004 + PubMed: Fanin 2003	-	M	-	Italy	-	>16y	-	-	-	hCK	asymptomatic; CPK elevated (HP:0003236) 3200	CAPN3	CAPN3	2	1	Marina Fanin
00214223	-	PubMed: Piluso 2005	-	M	-	Italy	-	-	-	-	-	hCK	-	CAPN3	CAPN3	2	1	Johan den Dunnen
00214224	-	PubMed: Piluso 2005	-	M	-	Italy	-	-	-	-	-	hCK	-	CAPN3	CAPN3	2	1	Johan den Dunnen
00214242	-	PubMed: Fanin 2004 + PubMed: Piluso 2005	-	M	-	Italy	-	-	-	-	-	hCK	young, asymptomatic	CAPN3	CAPN3	2	1	Marina Fanin
00214419	-	PubMed: Richard 1999	-	-	-	Italy	white	-	-	-	-	hCK	-	CAPN3	CAPN3	1	1	Johan den Dunnen
00214490	-	-	-	-	-	-	-	-	-	-	-	hCK	-	CAPN3	CAPN3	2	1	Lorea Blazquez
00214508	16971480-Pat3	PubMed: Fanin 2007	-	M	-	Italy	-	-	-	-	-	hCK	CPK elevated (HP:0003236)	CAPN3	CAPN3	2	1	Marina Fanin
00214748	-	PubMed: Nascimbeni 2010	father of 7652	M	-	Italy	-	-	-	-	-	hCK	-	CAPN3	CAPN3	1	1	Marina Fanin
00215096	-	PubMed: Nguyen 2007, PubMed: Krahn 2008	dysGAB	F	-	France	-	-	-	-	-	hCK	-	DYSF	DYSF	2	1	Svetlana Gorokhova
00215203	-	PubMed: Cagliani 2005, PubMed: Guglieri 2008	-	M	-	Italy	-	>13y	-	-	-	hCK	asymptomatic; CPK elevated (HP:0003236) 26x	DYSF	DYSF	2	1	Johan den Dunnen
00215239	-	PubMed: Krahn 2008	dysLE	F	-	France	-	-	-	-	-	hCK	asymptomatic at age 11y; CPK elevated (HP:0003236) 30x	DYSF	DYSF	3	1	Svetlana Gorokhova
00215290	-	PubMed: Cagliani 2005, PubMed: Guglieri 2008	-	F	-	Italy	-	>39y	-	-	-	hCK	Asymptomatic; CPK elevated (HP:0003236) 1-4x	DYSF	DYSF	2	1	Johan den Dunnen
00215301	-	PubMed: Nguyen 2005, PubMed: Nguyen 2007, PubMed: Krahn 2008	dysNI	M	-	France	-	-	-	-	-	hCK	-	DYSF	DYSF	4	1	Svetlana Gorokhova
00215392	-	-	-	F	-	Germany	-	>40y	-	-	-	hCK	restless legs; CPK elevated (HP:0003236) 1000 U/l	DYSF	DYSF	1	1	Lab Müller-Reible
00215416	15469449-F6a/B1I1	PubMed: Kawabe 2004, PubMed: Fanin 2006	father of 15469449.F6a and b; 1-I.1 in Fanin 2006	M	no	Italy	-	>65y	-	-	-	hCK	aymptotic; progressive myopathy, active degeneration and regeneration; CPK elevated (HP:0003236) 700-8000	DYSF	DYSF	2	1	Johan den Dunnen
00215438	-	PubMed: Krahn 2008	2 affecteds 1 generation	M	-	France	-	-	-	-	-	hCK	-	DYSF	DYSF	2	1	Svetlana Gorokhova
00215445	-	PubMed: Krahn 2008	-	M	-	France	white	-	-	-	-	hCK	muscle biospy no inflammation; 10y progression, still ambulant; CPK elevated (HP:0003236) 20x; still able to walk (-HP:0006957) ; still able to walk (-HP:0006957)	DYSF	DYSF	1	1	Svetlana Gorokhova
00215576	-	PubMed: Krahn 2008	-	F	-	France	-	-	-	-	-	hCK	-	DYSF	DYSF	2	1	Svetlana Gorokhova
00215578	-	PubMed: Krahn 2008	-	F	-	France	-	-	-	-	-	hCK	muscle biospy no inflammation; CPK elevated (HP:0003236) 25x	DYSF	DYSF	2	1	Svetlana Gorokhova
00215579	-	PubMed: Krahn 2008	-	F	-	France	-	-	-	-	-	hCK	CPK elevated (HP:0003236) 20x	DYSF	DYSF	2	1	Svetlana Gorokhova

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