Disease #00141

Official abbreviation LGMD-2
Name dystrophy, muscular, limb-girdle, autosomal recessive, type 2 (LGMD-2)
OMIM ID -
Individuals reported having this disease 180
Phenotype entries for this disease 179
Associated with 9 genes CAPN3, DYSF, FKRP, FKTN, SGCA, SGCB, SGCD, SGCG, TRAPPC11
Associated tissues -
Disease features -
Remarks -


Individuals

180 entries on 2 pages. Showing entries 1 - 100.
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00001239 - - - - - Netherlands - - 1 - - LGMD-2 - MICU1 MICU1 1 1 Johan den Dunnen
00056474 - - 2-generation family, 1 affected, unaffected carrier parents F - India - >12y 0 - - LGMD-2 no prenatal findings; mild intellectual delay; epilepsy; no ophthalmologic findings; no cardiorespiratory findings; brain MRI no structural abnormality; max motor ability run GMPPB GMPPB 2 1 Johan den Dunnen
00056479 - - 2-generation family, 1 affected, unaffected carrier parents M - United Kingdom (Great Britain) - >6y 0 - - LGMD-2 no prenatal findings; normal cognitive function; no ophthalmologic findings; no cardiorespiratory findings; CPK 3,000 max U/l; max motor ability run GMPPB GMPPB 2 1 Johan den Dunnen
00056480 - - 2-generation family, 1 affected, unaffected carrier parents M - Egypt - >18y 0 - - LGMD-2 no prenatal findings; mild intellectual delay; epilepsy; cataracts; nystagmus; wandering atrial pacemaker; cardiomyopathy; respiratory insufficiency; brain MRI no structural abnormality; CPK 5,200 max U/l; max motor ability run GMPPB GMPPB 2 1 Johan den Dunnen
00065233 - Balci-Hayta ESHG2016 P10.21 family, 2 affecteds ? yes Turkey - - 0 - - LGMD-2 atypical phenotype, no classical features of desminopathy, neither cardiomyopathy nor typical histological changes; IF staining/WB analysis show preserved expression cytoskeletal network formation variant desmin in skeletal muscle fibres DES DES 1 2 Johan den Dunnen
00079575 - PubMed: Crosbie 2000 - - - - - - 0 - - LGMD-2 - SSPN SSPN 2 1 Johan den Dunnen
00079577 - PubMed: Crosbie 2000 - - - - - - 0 - - LGMD-2 - SSPN SSPN 1 1 Johan den Dunnen
00100410 23989969-Pat PubMed: Cerevolo 2014, Journal: Cerevolo 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Italy - - 0 - - LGMD-2 see paper; ..., dark urine 10d after episode of fever and sore throat treated with antibiotics; 8y-mild waddling gait, lumbar hyperlordosis, slightly positive Gower’s maneuver, CPK 8,000–12,000 U/L SGCA, SGCB, SGCD, SGCG SGCA 1 1 Johan den Dunnen
00133433 - PubMed: Saillour 2008, PubMed: Trabelsi 2008 Pat17 in Trabelsi M ? (France) - - 0 - - LGMD-2 - SGCA SGCA 2 1 Human Genetics Diagnostic Laboratory - Cochin Hosp J Chelly, F Leturcq
00133894 - - - - - Netherlands - - 0 - - LGMD-2 - SGCG SGCG 3 1 Ieke Ginjaar
00133923 - PubMed: Saillour 2008, PubMed: Trabelsi 2008 Pat38 in Trabelsi - ? (France) - - 0 - - LGMD-2 - SGCG SGCG 2 1 Human Genetics Diagnostic Laboratory - Cochin Hosp J Chelly, F Leturcq
00133924 - PubMed: Saillour 2008, PubMed: Trabelsi 2008 Pat40 in Trabelsi - - (France) - - 0 - - LGMD-2 - SGCG SGCG 2 1 Human Genetics Diagnostic Laboratory - Cochin Hosp J Chelly, F Leturcq
00133925 - PubMed: Saillour 2008, PubMed: Trabelsi 2008 Pat39 in Trabelsi - - (France) - - 0 - - LGMD-2 - SGCG SGCG 3 2 Human Genetics Diagnostic Laboratory - Cochin Hosp J Chelly, F Leturcq
00133926 - PubMed: Saillour 2008 - - - (France) - - 0 - - LGMD-2 - SGCG SGCG 1 1 Human Genetics Diagnostic Laboratory - Cochin Hosp J Chelly, F Leturcq
00133927 - PubMed: Trabelsi 2008 Pat44 in Trabelsi - ? (France) - - 0 - - LGMD-2 - SGCG SGCG 2 1 Human Genetics Diagnostic Laboratory - Cochin Hosp J Chelly, F Leturcq
00134008 - ESHG2010, Piluso P12.132 - - - Italy - - 0 - - LGMD-2 - SGCG SGCG 2 1 Johan den Dunnen
00146567 Fam8 / .. PubMed: Brockington, OMIM:var0004 - - no - - - 0 - - LGMD-2 - FKRP FKRP 2 4 Johan den Dunnen
00146568 1, 3 PubMed: Walter - F;M yes Germany - - 0 - - LGMD-2 - FKRP FKRP 4 1 Rolf Stucka
00146569 4, 5, .. PubMed: Walter 8 cases families non-consanguineous parents F;M yes Germany - - 0 - - LGMD-2 - FKRP FKRP 4 8 Rolf Stucka
00146570 6, 13 PubMed: Walter - F - Germany - - 0 - - LGMD-2 - FKRP FKRP 4 3 Rolf Stucka
00146572 2 PubMed: Walter - M - Croatia (Hrvatska) - - 0 - - LGMD-2 - FKRP FKRP 4 3 Rolf Stucka
00146573 Fam6 / Fam16 PubMed: Brockington, PubMed: Mercuri, OMIM:var0004 2 non-consanguineous families - - - - - 0 - - LGMD-2 - FKRP FKRP 2 2 Johan den Dunnen
00146575 ? PubMed: Frosk European origin, 19 affecteds 5 families - - United States Hutterite - 0 - - LGMD-2 4/14 cardiomyopathy, 9/17 calf hypertrophy; CPK 33x mean FKRP FKRP 4 19 Johan den Dunnen
00146577 ? Sveen WMS2005 L.P.3.06 28 patients - - Denmark - - 0 - - LGMD-2 - FKRP FKRP 2 28 Marianne Schwartz
00146579 Pat3 PubMed: Boito 2005 adopted M - Italy - >42y 0 - - LGMD-2 lost ambulation 42y FKRP FKRP 2 1 Johan den Dunnen
00146580 Pat8 PubMed: Boito 2005 7 affecteds, 5M [one asymptomatic], 2F F;M - Italy - - 0 - - LGMD-2 - FKRP FKRP 2 7 Johan den Dunnen
00146581 Pat18 PubMed: Boito 2005 - F - Italy - >63y 0 - - LGMD-2 - FKRP FKRP 2 1 Johan den Dunnen
00146582 Fam4; patient 3 PubMed: de Paula 2003; PubMed: Yamamoto 2008 - F - Brazil - >24y 0 - - LGMD-2 mild, able to walk; CPK 13x FKRP FKRP 2 2 Johan den Dunnen
00146583 ? - - F - Germany - >30y 0 - - LGMD-2 CPK >2000 FKRP FKRP 2 1 Lab Müller-Reible
00146597 Pat1 Reilich, Acta Myol. XXV:73 founder allele M - Germany Hutterite >46y 0 - - LGMD-2 EMG compatible with chronic myopathy, dilated cardiomyopathy; CPK 1500 FKRP FKRP 2 1 Johan den Dunnen
00146598 Pat2 Reilich, Acta Myol. XXV:73 Hutterite founder allele ? no Germany Hutterite >45y 0 - - LGMD-2 EMG compatible with chronic myopathy, ambulant 45y; CPK 361 FKRP FKRP 2 1 Johan den Dunnen
00146600 Fam11: patient 8 PubMed: de Paula 2003; PubMed: Yamamoto 2008, OMIM:var0015 2 asymptomatic brothers; 19q13 linked F - Brazil - 33y 0 - - LGMD-2 mild with hCK, remained ambulant; CPK 6x FKRP FKRP 2 1 Johan den Dunnen
00146603 ? - - M - Turkey - >2y 0 - - LGMD-2 - FKRP FKRP 2 1 Lab Müller-Reible
00146604 ? - - M - United States - - 0 - - LGMD-2 - FKRP FKRP 2 1 Akanchha Kesari
00146607 Fam1 PubMed: Brockington - - no - - - 0 - - LGMD-2 - FKRP FKRP 2 1 Johan den Dunnen
00146608 ? - - - - Germany - - 0 - - LGMD-2 - FKRP FKRP 2 1 Lab Müller-Reible
00146626 Pat5 PubMed: Mercuri 2006 - - - - - - 0 - - LGMD-2 - FKRP FKRP 2 1 Johan den Dunnen
00146627 ? PubMed: Driss, PubMed: Driss, OMIM:var0006 13 affecteds, originally used to map this locus (Driss 2000) - yes Tunisia - - 0 - - LGMD-2 - FKRP FKRP 4 13 Johan den Dunnen
00146633 Fam9 PubMed: Brockington, OMIM:var0004 - - - - - - 0 - - LGMD-2 - FKRP FKRP 2 1 Johan den Dunnen
00146641 Fam10; patient 7 PubMed: de Paula 2003; PubMed: Yamamoto 2008, OMIM:var0014 female sibling equally affected F - - - >34y 0 - - LGMD-2 hyperCKemia (CPK 22x), able to walk FKRP FKRP 2 2 Johan den Dunnen
00146642 Fam11 PubMed: Brockington - - - - - - 0 - - LGMD-2 - FKRP FKRP 1 1 Johan den Dunnen
00146644 Pat2 PubMed: Boito 2005 - M - Italy - >19y 0 - - LGMD-2 - FKRP FKRP 1 1 Johan den Dunnen
00146645 Pat5 PubMed: Boito 2005 - M - Italy - >30y 0 - - LGMD-2 - FKRP FKRP 1 1 Johan den Dunnen
00146646 Pat6 PubMed: Boito 2005 - M - Italy - >35y 0 - - LGMD-2 lost ambulation 25y FKRP FKRP 1 1 Johan den Dunnen
00146647 Pat11 PubMed: Boito 2005 - M - Italy - >53y 0 - - LGMD-2 - FKRP FKRP 1 1 Johan den Dunnen
00146648 18832576-PatF6 - - M - United States - >10y 0 - - LGMD-2 - FKRP FKRP 2 1 Akanchha Kesari
00146649 Fam8; patient 9 PubMed: de Paula 2003; PubMed: Yamamoto 2008 - F - Brazil - >30y 0 - - LGMD-2 mild; CPK 21x FKRP FKRP 2 1 Johan den Dunnen
00146653 Fam6; patient 5 PubMed: de Paula 2003; PubMed: Yamamoto 2008 - F - Brazil - >15y 0 - - LGMD-2 mild, difficulty climbing stairs; CPK 12x FKRP FKRP 2 2 Johan den Dunnen
00146654 ? PubMed: de Paula 2003 unrelated patients - - Brazil - - 0 - - LGMD-2 - FKRP FKRP 1 2 Johan den Dunnen
00146661 Fam2 / Fam4 PubMed: Brockington, PubMed: Mercuri, OMIM:var0004 - - - - - - 0 - - LGMD-2 - FKRP FKRP 2 2 Johan den Dunnen
00146667 ? PubMed: Boito 2005 - F - Italy - >58y 0 - - LGMD-2 - FKRP FKRP 2 1 Chiara Boito
00146669 Fam3, 5, 12, 17 PubMed: Brockington, PubMed: Mercuri, OMIM:var0004 - - - - - - 0 - - LGMD-2 - FKRP FKRP 1 4 Johan den Dunnen
00146672 ? - - F - Germany - - 0 - - LGMD-2 - FKRP FKRP 3 1 Lab Müller-Reible
00146676 Fam7 PubMed: Brockington, OMIM:var0004 - - - - - - 0 - - LGMD-2 - FKRP FKRP 2 1 Johan den Dunnen
00146677 Fam10/Fam13 PubMed: Brockington, PubMed: Mercuri, OMIM:var0004 - - - - - - 0 - - LGMD-2 - FKRP FKRP 2 2 Johan den Dunnen
00146682 15 PubMed: Walter - F - Germany - - 0 - - LGMD-2 - FKRP FKRP 3 1 Rolf Stucka
00146683 14 PubMed: Walter - M - Germany - - 0 - - LGMD-2 - FKRP FKRP 3 1 Rolf Stucka
00146684 Fam7 (pat9) PubMed: Mercuri - - - - - - 0 - - LGMD-2 - FKRP FKRP 2 1 Johan den Dunnen
00146685 17 PubMed: Walter - F - Germany - - 0 - - LGMD-2 - FKRP FKRP 3 1 Rolf Stucka
00146686 18 PubMed: Walter - M - Germany - - 0 - - LGMD-2 - FKRP FKRP 3 1 Rolf Stucka
00146687 19 PubMed: Walter - F - Germany - - 0 - - LGMD-2 - FKRP FKRP 3 1 Rolf Stucka
00146688 20 PubMed: Walter - F - Germany - - 0 - - LGMD-2 - FKRP FKRP 3 1 Rolf Stucka
00146689 Fam6-Pat7 / .. PubMed: Mercuri - - - - - - 0 - - LGMD-2 - FKRP FKRP 2 1 Johan den Dunnen
00146690 Fam9 .. PubMed: Mercuri - - - - - - 0 - - LGMD-2 - FKRP FKRP 2 1 Johan den Dunnen
00146691 Fam10 .. PubMed: Mercuri, PubMed: Quijano-Roy 2006 sibs F;M - France - - 0 - - LGMD-2 lost ambulation 12/17y FKRP FKRP 2 2 Johan den Dunnen
00146692 Fam12 P17 PubMed: Mercuri, PubMed: Torelli 2005 - - - - - - 0 - - LGMD-2 - FKRP FKRP 2 1 Johan den Dunnen
00146693 Fam14 P19 PubMed: Mercuri, PubMed: Torelli 2005 - - - - - - 0 - - LGMD-2 - FKRP FKRP 2 1 Johan den Dunnen
00146697 ? - - - - Germany - - 0 - - LGMD-2 - FKRP FKRP 2 1 Lab Müller-Reible
00146698 ? - - - - Germany - - 0 - - LGMD-2 - FKRP FKRP 2 1 Lab Müller-Reible
00146700 NCL-08 PubMed: Frosk, {DB: Winnipeg} - - - United Kingdom (Great Britain) - - 0 - - LGMD-2 - FKRP FKRP 2 1 Johan den Dunnen
00146701 NCL-10 PubMed: Frosk, {DB: Winnipeg} - - - United Kingdom (Great Britain) - - 0 - - LGMD-2 - FKRP FKRP 2 1 Johan den Dunnen
00146702 C17.553; Fam12; pat. 10 PubMed: Frosk, PubMed: de Paula 2003, {DB: Winnipeg}; PubMed: Yamamoto 2008 - M no Brazil - >51y 0 - - LGMD-2 mild, able to walk; CPK x6 FKRP FKRP 2 1 Johan den Dunnen
00146703 G-04 PubMed: Frosk, {DB: Winnipeg} - - - Canada Germany - 0 - - LGMD-2 - FKRP FKRP 2 1 Johan den Dunnen
00146704 ? - - - - Germany - - 0 - - LGMD-2 - FKRP FKRP 2 1 Lab Müller-Reible
00146706 ? - - - - Germany - - 0 - - LGMD-2 - FKRP FKRP 2 1 Lab Müller-Reible
00146707 ? - - - - Germany - - 0 - - LGMD-2 - FKRP FKRP 2 1 Lab Müller-Reible
00146710 ? - - M - Germany - >7y 0 - - LGMD-2 - FKRP FKRP 2 1 Lab Müller-Reible
00146712 Pat8 PubMed: Torelli 2005 - - - - - - 0 - - LGMD-2 - FKRP FKRP 2 1 Johan den Dunnen
00146713 ? - - M - United States - - 0 - - LGMD-2 - FKRP FKRP 2 1 Akanchha Kesari
00146714 ? PubMed: Kesari 2008 - F - United States - >25y 0 - - LGMD-2 - FKRP FKRP 2 1 Akanchha Kesari
00146716 ? - - F - United States - - 0 - - LGMD-2 - FKRP FKRP 2 1 Akanchha Kesari
00146717 Pat7 PubMed: Boito 2005 - M - Italy - >42y 0 - - LGMD-2 - FKRP FKRP 1 1 Johan den Dunnen
00146718 Pat4 PubMed: Boito 2005 - F - Italy - >26y 0 - - LGMD-2 lost ambulation 24y FKRP FKRP 2 1 Johan den Dunnen
00146719 Pat16-16 / 19 PubMed: Boito 2005 sisters F - Italy - - 0 - - LGMD-2 one asymptomatic FKRP FKRP 2 1 Johan den Dunnen
00146720 Pat20 PubMed: Boito 2005 - F - Italy - >69y 0 - - LGMD-2 lost ambulation 69y FKRP FKRP 2 1 Johan den Dunnen
00146724 Fam7; patient 13 PubMed: de Paula 2003; PubMed: Yamamoto 2008 - F no Brazil - >39y 0 - - LGMD-2 mild, able to walk; CPK 7x FKRP FKRP 2 2 Johan den Dunnen
00146727 ? - - M - Germany - >41y 0 - - LGMD-2 - FKRP FKRP 2 1 Lab Müller-Reible
00146731 ? - - F - Germany - >16y 0 - - LGMD-2 - FKRP FKRP 2 1 Lab Müller-Reible
00146736 ? - - F - Hungary - >18y 0 - - LGMD-2 - FKRP FKRP 2 1 Lab Müller-Reible
00146737 ? - - M - United States - >9y 0 - - LGMD-2 - FKRP FKRP 2 1 Tom Winder
00146753 ? - - F - Germany - >15y 0 - - LGMD-2 - FKRP FKRP 1 1 Lab Müller-Reible
00146754 16 PubMed: Walter - F - Germany - - 0 - - LGMD-2 - FKRP FKRP 3 1 Rolf Stucka
00146755 Pat1 PubMed: Boito 2005 - M - Italy - 16y 0 - - LGMD-2 lost ambulation 13y FKRP FKRP 2 1 Johan den Dunnen
00146756 ? de Paula 2003 EJHG - - - - - - 0 - - LGMD-2 - FKRP FKRP 1 1 Johan den Dunnen
00146758 14663034h-I PubMed: Guglieri 2007 - M - Italy - >75y 0 - - LGMD-2 Moderate; hypertrophy, left ventricular hypocinesia; respiratory function restrictive; CPK 37x FKRP FKRP 2 1 Johan den Dunnen
00146759 14663034h-II PubMed: Guglieri 2007 - F - Italy - >46y 0 - - LGMD-2 Moderate; CPK 45x FKRP FKRP 2 1 Johan den Dunnen
00146760 14663034h-III PubMed: Guglieri 2007 - M - Italy - >69y 0 - - LGMD-2 Slow; cardiac function ; respiratory function normal; CPK 21x FKRP FKRP 2 1 Johan den Dunnen
00146761 14663034h-IV PubMed: Guglieri 2007 - M - Italy - >40y 0 - - LGMD-2 Slow; cardiac function ; respiratory function normal; CPK 35x FKRP FKRP 2 1 Johan den Dunnen
00146762 14663034h-V PubMed: Guglieri 2007 - M - Italy - >11y 0 - - LGMD-2 Slow; cardiac function ; respiratory function normal; CPK 25x FKRP FKRP 2 1 Johan den Dunnen
00146763 14663034h-VI PubMed: Guglieri 2007 - M - Italy - >10y 0 - - LGMD-2 cardiac function ; respiratory function normal; CPK 5x FKRP FKRP 2 1 Johan den Dunnen
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