All individuals with variants in gene CAPN3

1698 entries on 17 pages. Showing entries 1 - 100.
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00080923 - Trujillano et al., submitted unaffected parents - - - - - 0 - - LGMD-2A Muscular dystrophy, limb-girdle, type 2A (OMIM:253600) 1 1 Daniel Trujillano
00102454 20477750-PatIV12 - 5-generation family, branches with CAPN3 and LAMA2 variants F yes Tunisia - >29y 0 - - LGMD dystrophy, muscular, limb-girdle; calve hypertrophy; functional grade 3; CPK: 689; wheelchair bound >29y 1 1 Nacim Louhichi
00102537 20477750-PatV3 ESHG2010 Hadj Salem P12.119, PubMed: HadjSamen 2011 5-generation family, branches with CAPN3 and LAMA2 variants M yes Tunisia - >05y 0 - - MDC dystrophy, muscular, congenital; calve hypertrophy; CPK: 338; wheelchair bound >5y 1 1 Nacim Louhichi
00102538 20477750-PatIV13 - 5-generation family, branches with CAPN3 and LAMA2 variants M yes Tunisia - >31y 0 - - LGMD dystrophy, muscular, limb-girdle; calve hypertrophy; functional grade 7; CPK: 1232; wheelchair bound 29y 1 1 Nacim Louhichi
00102539 20477750-PatIV14 - 5-generation family, branches with CAPN3 and LAMA2 variants M yes Tunisia - >38y 0 - - LGMD dystrophy, muscular, limb-girdle; calve hypertrophy; functional grade 7; CPK: 337; wheelchair bound 33y 1 1 Nacim Louhichi
00102540 20477750-PatIV15 - 5-generation family, branches with CAPN3 and LAMA2 variants M yes Tunisia - >27y 0 - - LGMD dystrophy, muscular, limb-girdle; no calve hypertrophy; functional grade 9; CPK: 452; wheelchair bound 24y 1 1 Nacim Louhichi
00102542 20477750-PatV5 - 5-generation family, branches with CAPN3 and LAMA2 variants F yes Tunisia - >20y 0 - - LGMD dystrophy, muscular, limb-girdle; calve hypertrophy; functional grade 3; CPK: 2522; wheelchair bound >20y 1 1 Nacim Louhichi
00102543 20477750-PatV6 ESHG2010 Hadj Salem P12.119, PubMed: HadjSamen 2011 5-generation family, branches with CAPN3 and LAMA2 variants M yes Tunisia - >15y 0 - - LGMD calve hypertrophy; functional grade 4; CPK: 5675; wheelchair bound >15y 1 1 Nacim Louhichi
00102544 20477750-Fam ESHG2010 Hadj Salem P12.119, PubMed: HadjSamen 2011 5-generation family, branches with CAPN3 and LAMA2 variants - yes Tunisia - - 0 - - Healthy/Control calve hypertrophy; functional grade 4 1 6 Nacim Louhichi
00102545 20477750-Fam ESHG2010 Hadj Salem P12.119, PubMed: HadjSamen 2011 5-generation family, branches with CAPN3 and LAMA2 variants - yes Tunisia - - 0 - - Healthy/Control calve hypertrophy; functional grade 4 1 2 Nacim Louhichi
00108280 - Politano et al., Neuromuscul.Disord. 12: 733 - - - - - - 0 - - hCK - 1 1 Johan den Dunnen
00155749 - - - F no Colombia - 68y 0 - - LGMD-2A - 2 1 Martine Tetreault
00174744 29970176-Pat173a PubMed: Fichna 2018 - M - Poland - - 0 - - LGMD onset overt symptoms childhood; CPK raised 94x; limb-girdle weakness; diffuse muscle atrophy, quadriceps hypertrophy, ankle contractures; ambulatory - toe walking 2 1 Johan den Dunnen
00174745 29970176-Pat424 PubMed: Fichna 2018 - F - Poland - - 0 - - LGMD onset overt symptoms adolescence; CPK raised 1.7x; progressive limb-girdle weakness, deterioration after pregnancy; diffuse muscle atrophy, lower limb contractures; loss of ambulation in 4th decade 2 1 Johan den Dunnen
00174746 29970176-Pat186a PubMed: Fichna 2018 - M - Poland - - 0 - - LGMD onset overt symptoms early adulthood; CPK raised 28x; rapidly progressive limb-girdle weakness, diffuse muscle atrophy; ambulatory with assistance 2 1 Johan den Dunnen
00174747 29970176-Pat175d PubMed: Fichna 2018 - M - Poland - - 0 - - LGMD onset overt symptoms early childhood; CPK raised 27x; impaired gait from toddler age, toe walking, progressive limb-girdle weakness; diffuse muscle atrophy, calf hypertrophy, scoliosis, mild facial weakness; waddling gait 2 1 Johan den Dunnen
00174748 29970176-Pat12 PubMed: Fichna 2018 - M - Poland - - 0 - - LGMD CPK raised 12x; asymptomatic hyper-CKmia 1 1 Johan den Dunnen
00174749 29970176-Pat144 PubMed: Fichna 2018 - F - Poland - - 0 - - LGMD onset overt symptoms adolescence; CPK raised 8x; limb-girdle weakness, scapular winging, ankle contractures; ambulation normal 1 1 Johan den Dunnen
00174750 29970176-Pat212 PubMed: Fichna 2018 - F - Poland - - 0 - - LGMD onset overt symptoms adolescence; CPK raised 4x; limb-girdle weakness, diffuse muscle atrophy; muscle stiffness on cold; waddling gait 1 1 Johan den Dunnen
00174751 29970176-Pat127 PubMed: Fichna 2018 - F - Poland - - 0 - - LGMD onset overt symptoms adolescence; CPK raised 35x; asymmetrical ankle and hip contractures, mild limb-girdle weakness; ambulation - toe walking 1 1 Johan den Dunnen
00174752 29970176-Pat184a PubMed: Fichna 2018 - M - Poland - - 0 - - LGMD onset overt symptoms adolescence; CPK raised 16x; hamstring contractures; normal ambulation 1 1 Johan den Dunnen
00174753 29970176-Pat6 PubMed: Fichna 2018 - F - Poland - - 0 - - LGMD onset overt symptoms adolescence; CPK raised 31x; toe walking, ankle contractures; ambulation preserved 1 1 Johan den Dunnen
00174754 29970176-Pat764 PubMed: Fichna 2018 - F - Poland - - 0 - - LGMD onset overt symptoms childhood; CPK raised 77x; ankle contractures; toe walking 2 1 Johan den Dunnen
00174755 29970176-Pat18 PubMed: Fichna 2018 - M - Poland - - 0 - - LGMD onset overt symptoms early childhood; CPK raised 26x; impaired running from early childhood; progression of limb-girdle weakness and foot drop in adolescence; diffuse muscle atrophy, asymmetrical weakness - also distal weakness in upper and lower limbs; ambulation preserved 2 1 Johan den Dunnen
00174756 29970176-PatTO PubMed: Fichna 2018 - M - Poland - - 0 - - LGMD CPK raised 22x; asymptomatic hyper-CKmia 2 1 Johan den Dunnen
00174757 29970176-Pat8 PubMed: Fichna 2018 high CK in father M - Poland - - 0 - - LGMD onset overt symptoms early childhood; CPK raised 29x; impaired walking from toddler age, toe walking; lower limb contractures, scapular winging; ambulation preserved 2 1 Johan den Dunnen
00174758 29970176-Pat13 PubMed: Fichna 2018 - F - Poland - - 0 - - LGMD CPK raised 37x; asymptomatic hyper-CKmia 2 1 Johan den Dunnen
00174759 29970176-Pat4 PubMed: Fichna 2018 - F - Poland - - 0 - - LGMD onset overt symptoms childhood; CPK raised 42x; limb-girdle weakness; shoulder girdle muscle atrophy; waddling gait 2 1 Johan den Dunnen
00174760 29970176-Pat433 PubMed: Fichna 2018 - F - Poland - - 0 - - LGMD onset overt symptoms childhood; CPK raised 9x; toe walking and limb-girdle weakness; generalized muscle atrophy, hyperlordosis; lower and upper limb contractures; ambulatory - toe walking 2 1 Johan den Dunnen
00174761 29970176-Pat668 PubMed: Fichna 2018 - M - Poland - - 0 - - LGMD onset overt symptoms adulthood; CPK raised 4x; subacute upper limb onset; asymmetrical upper limb weakness and muscle atrophy, scapular winging, calf hypertrophy; normal ambulation 2 1 Johan den Dunnen
00174762 29970176-Pat193a PubMed: Fichna 2018 - M - Poland - - 0 - - LGMD onset overt symptoms childhood; CPK raised 23x; lower limb contractures; toe walking 2 1 Johan den Dunnen
00174763 29970176-Pat113 PubMed: Fichna 2018 - M - Poland - - 0 - - LGMD onset overt symptoms childhood; CPK raised 2x; massive contractures, generalized muscle atrophy; loss of ambulation in 3rd decade; 2 1 Johan den Dunnen
00174764 29970176-Pat144a PubMed: Fichna 2018 - F - Poland - - 0 - - LGMD onset overt symptoms adolescence; limb-girdle weakness; scapular winging, lower limb contractures; ambulation preserved 2 1 Johan den Dunnen
00174765 29970176-Pat225 PubMed: Fichna 2018 - F - Poland - - 0 - - LGMD CPK raised 42x; asymptomatic hyper-CKmia; calf hypertrophy 2 1 Johan den Dunnen
00207796 - - - M - Germany - - 0 - - - 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
00210170 - - - F - Germany - - 0 - - - HP:0011804 (Abnormality of muscle physiology); HP:0003701 (Proximal muscle weakness) 2 1 Andreas Laner
00213630 - - sibs M - United States - - 0 - - LGMD eosinophilic polymyositis, mild weakness 1 1 Tom Winder
00213631 - - sibs M no United States - - 0 - - LGMD eosinophilic polymyositis, mild weakness, hCK; CPK elevated (HP:0003236) 3 2 Tom Winder
00213632 - - - F - United States - >64y 0 - - LGMD - 2 1 Tom Winder
00213633 - - - M - United States - >21y 0 - - LGMD - 2 1 Tom Winder
00213634 - PubMed: de Paula - F;M - Brazil African-Brazilian - 0 - - LGMD CPK elevated (HP:0003236) 19x 2 1 Johan den Dunnen
00213635 - PubMed: de Paula - M - Brazil white - 0 - - LGMD CPK elevated (HP:0003236) 23x 2 2 Johan den Dunnen
00213636 07720071-B519 PubMed: Richard 1995, PubMed: Vainzof, PubMed: de Paula, OMIM:var0003 4 severely affected, 3 asymptomatic F;M - Brazil African-Brazilian - 0 - - LGMD CPK elevated (HP:0003236) 29x 2 7 Johan den Dunnen
00213637 07720071-M2407 PubMed: Richard 1995 - - - France - - 0 - - LGMD - 2 1 Johan den Dunnen
00213638 - PubMed: Fanin 2004 + PubMed: Fanin 2005 - M - Italy - - 0 - - LGMD mild 2 1 Marina Fanin
00213639 - PubMed: Richard 1999 - - - France - - 0 - - LGMD - 2 1 Johan den Dunnen
00213640 - - - F - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00213641 Fams PubMed: Canki-Klain, PubMed: Milic 2005, OMIM:var0009 - - - Croatia (Hrvatska) - - 0 - - LGMD - 2 11 Johan den Dunnen
00213642 - - - M - Germany - - 0 - - LGMD - 2 1 Lab Müller-Reible
00213643 - - - M - Germany - - 0 - - LGMD - 2 1 Lab Müller-Reible
00213644 - - - - - France - - 0 - - LGMD - 2 1 Amets Sáenz
00213645 - PubMed: Richard 1999 - - - Russia - - 0 - - LGMD - 2 1 Johan den Dunnen
00213646 - PubMed: Fanin 2004, PubMed: Fanin 2005, OMIM:var0009 - - - Italy - - 0 - - LGMD - 2 1 Marina Fanin
00213647 - PubMed: Pogoda 8 patients; estimated frequency amongst East Slavs 1/150 - - Russia - - 0 - - LGMD - 2 8 Johan den Dunnen
00213648 - PubMed: Fanin 2004, OMIM:var0009 - - - Albania - - 0 - - LGMD - 2 1 Marina Fanin
00213649 Fam13 PubMed: Canki-Klain, PubMed: Milic 2005, OMIM:var0009 2 brothers and sister F;M - Croatia (Hrvatska) - - 0 - - LGMD - 2 3 Johan den Dunnen
00213650 - PubMed: Todorova 2007 - F - Bulgaria - - 0 - - LGMD - 2 1 Johan den Dunnen
00213651 - Georgieva ESHG2007, P677 - M - Bulgaria - - 0 - - LGMD - 2 1 Johan den Dunnen
00213652 - Georgieva ESHG2007, P677 - M - Bulgaria - - 0 - - LGMD - 2 1 Johan den Dunnen
00213653 - Georgieva ESHG2007, P677 - F - Bulgaria - - 0 - - LGMD - 2 2 Johan den Dunnen
00213654 - Meznaric-Petrusa, Neuromuscul.Disord. 12: 731 - - - Slovenia - - 0 - - LGMD - 2 3 Johan den Dunnen
00213655 - PubMed: Fanin 2004, OMIM:var0009 - - - Slovenia - - 0 - - LGMD - 2 1 Marina Fanin
00213656 - PubMed: Fanin 2004, PubMed: Fanin 2005, OMIM:var0009 - - - Italy - - 0 - - LGMD - 2 1 Marina Fanin
00213657 - PubMed: Georgieva 2005 - F no Bulgaria - - 0 - - LGMD - 2 5 Johan den Dunnen
00213658 Pat9 PubMed: Hermanova 2005 - F - Czech Republic - >26y 0 - - LGMD - 2 1 Johan den Dunnen
00213659 Pat70 PubMed: Krahn 2006 - F - France - - 0 - - LGMD - 2 1 Johan den Dunnen
00213660 09150160-IT5414 PubMed: Richard 1997, PubMed: Restagno 1997 3-generation family, 4 affecteds (2M, 2F, 1 fetus) - - Italy - - 0 - - LGMD beginning scapulohumeral distribution; extensor digitorum brevis muscle; hypertrophy, Achille's tendon contractures; CPK elevated (HP:0003236) 27x; lost ability to walk (HP:0006957) 24-28y 1 6 Johan den Dunnen
00213661 09266733-Fam15 PubMed: Dincer 1997 - - - Turkey - - 0 - - LGMD intermediate 2 1 Johan den Dunnen
00213662 Fam6 / Fam17 PubMed: Milic 2005 shared haplotypes - - Croatia (Hrvatska) - - 0 - - LGMD - 2 2 Johan den Dunnen
00213663 - PubMed: Fanin 2004, PubMed: Fanin 2005, OMIM:var0009 - - - Italy - - 0 - - LGMD - 2 1 Marina Fanin
00213664 Pat8 PubMed: Hermanova 2005 - F - Czech Republic - >26y 0 - - LGMD - 2 1 Johan den Dunnen
00213665 - PubMed: Todorova 2007 - F - Bulgaria - - 0 - - LGMD - 2 1 Johan den Dunnen
00213666 - - - M - Germany - - 0 - - LGMD - 2 1 Lab Müller-Reible
00213667 - - - - - France - - 0 - - LGMD - 2 1 Amets Sáenz
00213668 - - - F - Germany - - 0 - - LGMD - 2 1 Lab Müller-Reible
00213669 Fam16 PubMed: Canki-Klain, PubMed: Milic 2005, OMIM:var0009 brother and sister F;M - Croatia (Hrvatska) - - 0 - - LGMD - 2 2 Johan den Dunnen
00213670 Pat69 PubMed: Krahn 2006 - F - France - - 0 - - LGMD - 2 1 Johan den Dunnen
00213671 Fam4 PubMed: Canki-Klain, PubMed: Milic 2005, OMIM:var0009 2 brothers and sister F;M - Croatia (Hrvatska) - - 0 - - LGMD - 2 3 Johan den Dunnen
00213672 - PubMed: Georgieva 2005 - M - Bulgaria - - 0 - - LGMD diagnosed BMD 2 2 Johan den Dunnen
00213673 - Georgieva ESHG2007, P677 - F - Bulgaria - - 0 - - LGMD - 2 1 Johan den Dunnen
00213674 Pat48 PubMed: Krahn 2006 - M yes France - >20y 0 - - LGMD moderate 4 1 Johan den Dunnen
00213675 - - - - - United States - - 0 - - LGMD - 2 1 Johan den Dunnen
00213676 07720071-R12 PubMed: Richard 1995, OMIM:var0002 - - - Reunion - - 0 - - LGMD - 2 2 Johan den Dunnen
00213677 - - - - - (Spain);(France) - - 0 - - LGMD - 2 1 Amets Sáenz
00213678 07720071-A PubMed: Richard 1995, OMIM:var0001 15 linked families Indiana - - United States Amish - 0 - - LGMD - 2 15 Johan den Dunnen
00213679 07720071-B501 PubMed: Richard 1995, PubMed: de Paula, OMIM:var0001 - F;M - Brazil white - 0 - - LGMD CPK elevated (HP:0003236) 5.6x 2 1 Johan den Dunnen
00213680 - PubMed: Starling 1M / 4F - - Brazil - - 0 - - SMA - 2 5 Johan den Dunnen
00213681 - PubMed: Cobo 2004 51 homozygous patients (Spain, Portugal, Germany, France, USA), shared haplotype, origin 50 generations old - - - white - 0 - - LGMD - 2 51 Amets Sáenz
00213682 - PubMed: de Paula - F;M - Brazil white - 0 - - LGMD CPK elevated (HP:0003236) 10x 2 1 Johan den Dunnen
00213683 - PubMed: de Paula - F no Brazil white - 0 - - LGMD CPK elevated (HP:0003236) 2x 2 1 Johan den Dunnen
00213684 - PubMed: de Paula - F - Brazil white - 0 - - LGMD CPK elevated (HP:0003236) 34x 2 1 Johan den Dunnen
00213685 - PubMed: de Paula - M no Brazil white - 0 - - LGMD CPK elevated (HP:0003236) 12x 2 1 Johan den Dunnen
00213686 - PubMed: de Paula - M no Brazil African-Brazilian - 0 - - LGMD CPK elevated (HP:0003236) 62x 2 2 Johan den Dunnen
00213687 - PubMed: Urtasun 1998, OMIM:var0006 25 patients; ancestral - - Spain Basque - 0 - - LGMD - 2 25 Johan den Dunnen
00213688 - PubMed: Krahn 2006, OMIM:var0006 - M - Spain - - 0 - - ? CPK elevated (HP:0003236) 8616 2 1 Johan den Dunnen
00213689 - PubMed: Krahn 2006, OMIM:var0006 - F - Spain - - 0 - - hCK CPK elevated (HP:0003236) 10000 2 1 Johan den Dunnen
00213690 - - - - - France - - 0 - - LGMD - 2 1 Amets Sáenz
00213691 Pat39 PubMed: Krahn 2006 - M - France - >37y 0 - - LGMD severe; lost ability to walk (HP:0006957); lost ability to walk (HP:0006957) 2 1 Johan den Dunnen
00213692 - PubMed: Penisson-Besnier 9 homozygous families; derived from one ancestral mutation - - Reunion - - 0 - - LGMD - 2 9 Johan den Dunnen
00213693 - - - - - France - - 0 - - LGMD - 2 1 Amets Sáenz
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