All individuals with variants in gene SGCB

397 entries on 4 pages. Showing entries 1 - 100.
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00072171 - PubMed: Semplicini 2015, Journal: Semplicini 2015 No family history - - - Tunisia - 0 - - LGMD2E;LGMDR4 mild limb-girdle muscular dystrophy (HP:0006785), cardiomyopathy (HP:0001638), proximal muscle weakness (HP:0003701) 1 1 Jamie Zeegers
00072173 - PubMed: Semplicini 2015, Journal: Semplicini 2015 No family history - - - Ivory Coast - 0 - - LGMD2E;LGMDR4 mild limb-girdle muscular dystrophy (HP:0006785), cardiomyopathy (HP:0001638), proximal muscle weakness (HP:0003701) 1 1 Jamie Zeegers
00072174 - PubMed: Semplicini 2015, Journal: Semplicini 2015 No family history - - - Italy - 0 - - LGMD2E;LGMDR4 mild limb-girdle muscular dystrophy (HP:0006785), cardiomyopathy (HP:0001638), proximal muscle weakness (HP:0003701) 1 1 Jamie Zeegers
00072175 - PubMed: Semplicini 2015, Journal: Semplicini 2015 No family history - - - Jordan - 0 - - LGMD2E;LGMDR4 cardiomyopathy (HP:0001638), proximal muscle weakness (HP:0003701) 1 1 Jamie Zeegers
00072176 - PubMed: Semplicini 2015, Journal: Semplicini 2015 No family history - - - Italy - 0 - - LGMD2E;LGMDR4 proximal muscle weakness (HP:0003701) 1 1 Jamie Zeegers
00072177 - PubMed: Semplicini 2015, Journal: Semplicini 2015 No family history - - - French - 0 - - LGMD2E;LGMDR4 mild limb-girdle muscular dystrophy (HP:0006785), proximal muscle weakness (HP:0003701) 2 1 Jamie Zeegers
00072179 - PubMed: Semplicini 2015, Journal: Semplicini 2015 No history family - - - Italian - 0 - - LGMD2E;LGMDR4 severe limb-girdle muscular dystrophy (HP:0006785), cardiomyopathy (HP:0001638), proximal muscle weakness (HP:0003701), distal muscle weakness (HP:0002460) 1 1 Jamie Zeegers
00072180 - PubMed: Semplicini 2015, Journal: Semplicini 2015 No family history - - - Italian - 0 - - LGMD2E;LGMDR4 severe limb-girdle muscular dystrophy (HP:0006785), cardiomyopathy (HP:0001638), proximal muscle weakness (HP:0003701), distal muscle weakness (HP:0002460) 2 1 Jamie Zeegers
00072181 - PubMed: Semplicini 2015, Journal: Semplicini 2015 No family history - - - Italian - 0 - - LGMD2E;LGMDR4 severe limb-girdle muscular dystrophy (HP:0006785), cardiomyopathy (HP:0001638), proximal muscle weakness (HP:0003701), distal muscle weakness (HP:0002460) 2 1 Jamie Zeegers
00072182 - PubMed: Semplicini 2015, Journal: Semplicini 2015 No family history - - - Italian - 0 - - LGMD2E;LGMDR4 mild limb-girdle muscular dystrophy (HP:0006785), proximal muscle weakness (HP:0003701), distal muscle weakness (HP:0002460) 2 1 Jamie Zeegers
00072184 - PubMed: Semplicini 2015, Journal: Semplicini 2015 No family history - - - Albanian - 0 - - LGMD2E;LGMDR4 mild limb-girdle muscular dystrophy (HP:0006785), cardiomyopathy (HP:0001638), proximal muscle weakness (HP:0003701), distal muscle weakness (HP:0002460) 1 1 Jamie Zeegers
00072185 - PubMed: Semplicini 2015, Journal: Semplicini 2015 No family history - - - Denmark - 0 - - LGMD2E;LGMDR4 mild limb-girdle muscular dystrophy (HP:0006785), no cardiomyopathy (-HP:0001638), proximal muscle weakness (HP:0003701), distal muscle weakness (HP:0002460) 2 1 Jamie Zeegers
00072186 - PubMed: Semplicini 2015, Journal: Semplicini 2015 No family history - - - Italian - 0 - - LGMD2E;LGMDR4 severe limb-girdle muscular dystrophy (HP:0006785), cardiomyopathy (HP:0001638), proximal muscle weakness (HP:0003701), distal muscle weakness (HP:0002460) 1 1 Jamie Zeegers
00072187 - PubMed: Semplicini 2015, Journal: Semplicini 2015 No family history - - - Denmark - 0 - - LGMD2E;LGMDR4 severe limb-girdle muscular dystrophy (HP:0006785), cardiomyopathy (HP:0001638), proximal muscle weakness (HP:0003701), distal muscle weakness (HP:0002460) 1 1 Jamie Zeegers
00072190 - PubMed: Semplicini 2015, Journal: Semplicini 2015 No family history - - - Italian - 0 - - LGMD2E;LGMDR4 severe limb-girdle muscular dystrophy (HP:0006785), proximal muscle weakness (HP:0003701), distal muscle weakness (HP:0002460) 1 1 Jamie Zeegers
00072191 - PubMed: Semplicini 2015, Journal: Semplicini 2015 No family history - - - Italian - 0 - - LGMD2E;LGMDR4 proximal muscle weakness (HP:0003701) 1 1 Jamie Zeegers
00072194 - PubMed: Semplicini 2015, Journal: Semplicini 2015 No family history - - - Denmark - 0 - - LGMD2E;LGMDR4 severe or mild limb-girdle muscular dystrophy (HP:0006785), cardiomyopathy (HP:0001638), proximal muscle weakness (HP:0003701), distal muscle weakness (HP:0002460) 1 1 Jamie Zeegers
00072196 - PubMed: Semplicini 2015, Journal: Semplicini 2015 No family history - - - French - 0 - - LGMD2E;LGMDR4 severe limb-girdle muscular dystrophy (HP:0006785), cardiomyopathy (HP:0001638), proximal muscle weakness (HP:0003701), distal muscle weakness (HP:0002460) 2 1 Jamie Zeegers
00072197 - PubMed: Semplicini 2015, Journal: Semplicini 2015 No family history - - - Greece - 0 - - LGMD2E;LGMDR4 severe limb-girdle muscular dystrophy (HP:0006785), cardiomyopathy (HP:0001638), proximal muscle weakness (HP:0003701), distal muscle weakness (HP:0002460) 1 1 Jamie Zeegers
00072200 - PubMed: Semplicini 2015, Journal: Semplicini 2015 No family history - - - Italian - 0 - - LGMD2E;LGMDR4 proximal muscle weakness (HP:0003701) 1 1 Jamie Zeegers
00132995 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133033 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133037 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133040 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133042 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133044 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133046 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133054 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133055 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133065 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133066 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133067 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133068 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133073 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133074 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133081 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133084 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133089 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133090 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133092 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133098 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133099 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133100 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133106 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133108 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133111 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133112 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133119 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133120 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133121 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133122 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133125 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133126 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133138 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133143 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133144 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133152 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133159 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133166 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133174 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133186 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133187 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133202 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133212 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133510 private email - - F no India - >25y 0 - - LGMD - 1 1 Johan den Dunnen
00133518 - PubMed: Barresi 2000, OMIM:var0003 with DCM, paternal cousin of SGCB_00003aa M no Italy - 27y 0 - - MD 26y-inable to walk (HP:0002540); 2540 elevated CPK (HP:0003236) 1 1 Johan den Dunnen
00133519 - PubMed: Love - M - New Zealand - - 0 - - ? - 1 1 Johan den Dunnen
00133520 - - - - - Netherlands - - 0 - - LGMD - 2 1 Ieke Ginjaar
00133521 - - - - - Netherlands - - 0 - - LGMD - 2 1 Ieke Ginjaar
00133522 - - - - - Netherlands - - 0 - - LGMD - 2 1 Ieke Ginjaar
00133523 - - - - - Netherlands - - 0 - - LGMD - 2 1 Ieke Ginjaar
00133524 - - - - - Netherlands - - 0 - - LGMD - 2 1 Ieke Ginjaar
00133525 - PubMed: Duggan - - - - United States/Italy - 0 - - MD >13y-inable to walk (HP:0002540) 1 1 Johan den Dunnen
00133526 - PubMed: Duclos 1998 - M - United States - >15y 0 - - LGMD inable to walk (HP:0002540) 1 1 Johan den Dunnen
00133527 - Dincer 2004, Acta Myologica XXIII: 67 2 patients - - Turkey - - 0 - - LGMD - 1 2 Johan den Dunnen
00133528 - PubMed: Love - - - New Zealand - - 0 - - ? - 1 1 Johan den Dunnen
00133529 - PubMed: Fanin 2003 - M - Italy - >24y 0 - - LGMD severe, cardiomyopathy; 18y-inable to walk (HP:0002540) 1 1 Johan den Dunnen
00133530 - - - - - Netherlands - - 0 - - ? - 1 2 Ieke Ginjaar
00133531 - - - - - - - - 0 - - ? - 1 1 Ieke Ginjaar
00133532 - PubMed: Duclos 1998 presymptomatic F - United States Amish - 0 - - LGMD >9y-inable to walk (HP:0002540); 12480 elevated CPK (HP:0003236) 2 1 Johan den Dunnen
00133533 - PubMed: Crosbie 2000 shared haplotype (Southern Indiana) - - United States Amish - 0 - - LGMD - 2 11 Johan den Dunnen
00133534 - PubMed: Duggan second degree cousins of 16934466-IV.1 and mother III.4, 4 generation family; 31 in Duggan 1997 F - Italy - >21y 0 - - MD severe; 10y-inable to walk (HP:0002540) 2 1 Johan den Dunnen
00133535 - PubMed: Fanin 2003, OMIM:var0003 - F - Italy - >27y 0 - - MD 10y-inable to walk (HP:0002540) 2 1 Johan den Dunnen
00133536 - PubMed: Barresi 2000, OMIM:var0003 paternal cousin of SGCB_00003# F - Italy - >28y 0 - - MD no CMD; 15y-inable to walk (HP:0002540) 2 1 Johan den Dunnen
00133537 - PubMed: Bonnemann, PubMed: Moreira 2003, OMIM:var0004 - F - Brazil - >11y 0 - - LGMD severe; 11y-inable to walk (HP:0002540) 2 1 Johan den Dunnen
00133538 - PubMed: Bonnemann, PubMed: Moreira 2003, OMIM:var0005 sister of LG3.2, LG3.3 F - Brazil - >21y 0 - - LGMD severe; 14y-inable to walk (HP:0002540) 2 1 Johan den Dunnen
00133539 - PubMed: Bonnemann, PubMed: Moreira 2003, OMIM:var0006 - F - Brazil - >17y 0 - - LGMD severe; 11y-inable to walk (HP:0002540) 2 1 Johan den Dunnen
00133540 - PubMed: Duclos 1998 sister of Fam2.a F - United States Amish - 0 - - LGMD >57y-inable to walk (HP:0002540) 2 1 Johan den Dunnen
00133541 - Rivas 2004, Acta Myologica XXIII: 159 - F - Spain - - 0 - - MD severe; 15x elevated CPK (HP:0003236) 2 1 Johan den Dunnen
00133542 - PubMed: Bonnemann, OMIM:var0008 - - - Tunisia - - 0 - - LGMD - 2 1 Johan den Dunnen
00133543 - PubMed: Duggan - - - - United States/Italy - 0 - - MD 11y-inable to walk (HP:0002540) 2 1 Johan den Dunnen
00133544 - Dincer 2004, Acta Myologica XXIII: 67 - - - Turkey - - 0 - - LGMD - 2 1 Johan den Dunnen
00133545 - PubMed: Duggan - - - - United States/Italy - 0 - - MD 15y-inable to walk (HP:0002540) 2 1 Johan den Dunnen
00133546 Pat6 PubMed: Ginjaar 2000 - F ? Netherlands - >11y 0 - - MD >11y-inable to walk (HP:0002540); 60x elevated CPK (HP:0003236) 1 1 Ieke Ginjaar
00133547 Pat24 PubMed: Ginjaar 2000 - F - Netherlands - >47y 0 - - MD 44y-inable to walk (HP:0002540); 24x elevated CPK (HP:0003236) 1 1 Ieke Ginjaar
00133548 - Ginjaar WMS2005 - - no Netherlands - - 0 - - MD - 2 1 Ieke Ginjaar
00133549 - PubMed: Duggan - - - - United States/Italy - 0 - - MD 14y-inable to walk (HP:0002540) 2 1 Johan den Dunnen
00133550 - PubMed: Fanin 2003 - M - Italy - >20y 0 - - MD 14y6m-inable to walk (HP:0002540) 2 1 Johan den Dunnen
00133551 - PubMed: Duclos 1998 sister of Fam3a2 F - United States Amish - 0 - - LGMD >39y-inable to walk (HP:0002540) 2 1 Johan den Dunnen
00133552 - {DB: Newcastle} - - - - - - 0 - - LGMD - 2 1 Johan den Dunnen
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