All individuals with variants in gene CAPN3

2506 entries on 26 pages. Showing entries 1 - 100.
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00080923 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - LGMDR1;LGMD2A 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 - - - 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 - - - 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 - - - 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 - - - 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 - - - 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 - - - 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 - - - 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 - - - - - 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 - - - - - Healthy/Control calve hypertrophy; functional grade 4 1 2 Nacim Louhichi
00108280 - Politano et al., Neuromuscul.Disord. 12: 733 - - - - - - - - - hCK - 1 1 Johan den Dunnen
00155749 patient PubMed: Nicolau 2020 - F no Colombia - 68y - - - LGMDR1;LGMD2A 39y-shoulder pain, exercise intolerance; developed progressive weakness affecting proximal upper and lower limbs, scapular winging; 56y-wheelchair bound; elevated CK 4059 IU/L; EMG myopathic with fibrillation potentials; muscle biopsy dystrophic, large number lobulated fibres 2 1 Martine Tetreault
00174744 Pat173a PubMed: Fichna 2018 - M - Poland - - - - - 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 Pat424 PubMed: Fichna 2018 - F - Poland - - - - - 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 Pat186a PubMed: Fichna 2018 - M - Poland - - - - - 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 Pat175d PubMed: Fichna 2018 - M - Poland - - - - - 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 Pat12 PubMed: Fichna 2018 - M - Poland - - - - - LGMD CPK raised 12x; asymptomatic hyper-CKmia 1 1 Johan den Dunnen
00174749 Pat144 PubMed: Fichna 2018 - F - Poland - - - - - LGMD onset overt symptoms adolescence; CPK raised 8x; limb-girdle weakness, scapular winging, ankle contractures; ambulation normal 1 1 Johan den Dunnen
00174750 Pat212 PubMed: Fichna 2018 - F - Poland - - - - - 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 Pat127 PubMed: Fichna 2018 - F - Poland - - - - - 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 Pat184a PubMed: Fichna 2018 - M - Poland - - - - - LGMD onset overt symptoms adolescence; CPK raised 16x; hamstring contractures; normal ambulation 1 1 Johan den Dunnen
00174753 Pat6 PubMed: Fichna 2018 - F - Poland - - - - - LGMD onset overt symptoms adolescence; CPK raised 31x; toe walking, ankle contractures; ambulation preserved 1 1 Johan den Dunnen
00174754 Pat764 PubMed: Fichna 2018 - F - Poland - - - - - LGMD onset overt symptoms childhood; CPK raised 77x; ankle contractures; toe walking 2 1 Johan den Dunnen
00174755 Pat18 PubMed: Fichna 2018 - M - Poland - - - - - 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 PatTO PubMed: Fichna 2018 - M - Poland - - - - - LGMD CPK raised 22x; asymptomatic hyper-CKmia 2 1 Johan den Dunnen
00174757 Pat8 PubMed: Fichna 2018 high CK in father M - Poland - - - - - 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 Pat13 PubMed: Fichna 2018 - F - Poland - - - - - LGMD CPK raised 37x; asymptomatic hyper-CKmia 2 1 Johan den Dunnen
00174759 Pat4 PubMed: Fichna 2018 - F - Poland - - - - - LGMD onset overt symptoms childhood; CPK raised 42x; limb-girdle weakness; shoulder girdle muscle atrophy; waddling gait 2 1 Johan den Dunnen
00174760 Pat433 PubMed: Fichna 2018 - F - Poland - - - - - 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 Pat668 PubMed: Fichna 2018 - M - Poland - - - - - 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 Pat193a PubMed: Fichna 2018 - M - Poland - - - - - LGMD onset overt symptoms childhood; CPK raised 23x; lower limb contractures; toe walking 2 1 Johan den Dunnen
00174763 Pat113 PubMed: Fichna 2018 - M - Poland - - - - - 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 Pat144a PubMed: Fichna 2018 - F - Poland - - - - - LGMD onset overt symptoms adolescence; limb-girdle weakness; scapular winging, lower limb contractures; ambulation preserved 2 1 Johan den Dunnen
00174765 Pat225 PubMed: Fichna 2018 - F - Poland - - - - - LGMD CPK raised 42x; asymptomatic hyper-CKmia; calf hypertrophy 2 1 Johan den Dunnen
00174784 PatCM;A1 PubMed: Fichna 2018, PubMed: Macias 2021 - F - Poland - - - - - LGMD onset overt symptoms early childhood; CPK raised 27x; delayed motor milestones, progressive limb-girdle weakness, calf hypertrophy; loss of ambulation in first decade 2 1 Johan den Dunnen
00174785 Pat19;PatA2 PubMed: Fichna 2018, PubMed: Macias 2021 - M - Poland - - - - - LGMD onset overt symptoms adolescence; CPK raised 7x; waddling gait from adolescence; myalgia and progression of lower limb weakness after upper respiratory tract infection in 8th decade; cardiac arrhythmias; diffuse muscle atrophy, hyperlordosis; waddling gait 5 1 Johan den Dunnen
00174792 Pat448a;A3 PubMed: Fichna 2018, PubMed: Macias 2021 - F - Poland - - - - - LGMD onset overt symptoms adulthood; CPK raised 2.5x; progressive limb-girdle weakness; neck extensor weakness; ambulation with assistance 5 1 Johan den Dunnen
00174793 Pat179;A4 PubMed: Fichna 2018, PubMed: Macias 2021 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - Poland - - - - - LGMD onset overt symptoms adolescence; CPK raised 6x; progressive limb-girdle weakness; neck extensor weakness; ambulation with assistance 5 2 Johan den Dunnen
00174794 Pat214;A5(II1) PubMed: Fichna 2018, PubMed: Macias 2021 2-eneration family, affected sister/brother F - Poland - - - - - LGMD onset overt symptoms adulthood; CPK raised 22x; progressive limb-girdle weakness; diffuse muscle atrophy; waddling gait 6 2 Johan den Dunnen
00174795 Pat191;A6(II2) PubMed: Fichna 2018, PubMed: Macias 2021 2-generation family, 3 affected sibs (F, 2M) M - Poland - - - - - LGMD onset overt symptoms adulthood; CPK raised 1.5x; asymmetrical upper limb onset; scapular winging, shoulder girdle muscle atrophy, calf hypertrophy; waddling gait 5 3 Johan den Dunnen
00174796 Pat658;A12(II2) PubMed: Fichna 2018, PubMed: Fichna 2018 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F - Poland - - - - - LGMD onset overt symptoms adolescence; CPK raised 3x; progressive limb-girdle weakness; generalized muscle atrophy, hyperlordosis; waddling gait 2 2 Johan den Dunnen
00174797 Pat752;A10 PubMed: Fichna 2018, PubMed: Macias 2021 - F - Poland - - - - - LGMD onset overt symptoms adulthood; CPK raised 2.5x; progressive limb-girdle weakness; ambulation preserved 2 1 Johan den Dunnen
00174798 Pat170;A7 PubMed: Fichna 2018, PubMed: Macias 2021 - M - Poland - - - - - LGMD onset overt symptoms adulthood; CPK raised 4x; limb-girdle weakness, fatigability, muscle cramps; calf hypertrophy; ambulation preserved 5 1 Johan den Dunnen
00174799 Pat250a;A8(II3) PubMed: Fichna 2018, PubMed: Macias 2021 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Poland - - - - - LGMD onset overt symptoms adulthood; CPK raised 12x; upper limb predominant involvement; muscle hypertrophy, scapular winging; ambulation preserved 5 2 Johan den Dunnen
00174800 Pat130a;A11 PubMed: Fichna 2018, PubMed: Macias 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Poland - - - - - LGMD onset overt symptoms adolescence; CPK raised 27x; limb-girdle weakness; generalized muscle atrophy, scapular winging; ambulation preserved 2 1 Johan den Dunnen
00174801 Pat160a;A9(II2) PubMed: Fichna 2018 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents/ F - Poland - - - - - LGMD onset overt symptoms adolescence; CPK raised 36x; limb-girdle weakness; generalized muscle atrophy, calf hypertrophy; ambulation preserved 4 2 Johan den Dunnen
00174802 Pat128a;B3 PubMed: Fichna 2018, PubMed: Macias 2021 - F - Poland - - - - - LGMD onset overt symptoms childhood; CPK raised 81x; rapidly progressive limb-girdle weakness, severe muscle atrophy; waddling gait 4 1 Johan den Dunnen
00174804 Pat592;B5 PubMed: Fichna 2018, PubMed: Macias 2021 - F - Poland - - - - - LGMD onset overt symptoms adolescence; CPK raised 1.4x; slowly progressive limb-girdle weakness, myalgia and muscle cramps; ambulation preserved 3 1 Johan den Dunnen
00174805 Pat197;B8 PubMed: Fichna 2018, PubMed: Macias 2021 - F - Poland - - - - - LGMD CPK raised 20x; asymptomatic hyper-CKmia 1 1 Johan den Dunnen
00174808 Pat14;B14(II1) PubMed: Fichna 2018, PubMed: Macias 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Poland - - - - - LGMD CPK raised 80x; asymptomatic hyper-CKmia 1 1 Johan den Dunnen
00174810 Pat9:B1(II2) PubMed: Fichna 2018, PubMed: Macias 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Poland - - - - - LGMD onset overt symptoms early childhood; CPK raised 9x; toe walking; significant contractures in lower limbs; ambulation preserved 5 1 Johan den Dunnen
00174818 Pat667;B2(II1) PubMed: Fichna 2018, PubMed: Macias 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Poland - - - - - LGMD onset overt symptoms childhood; CPK raised 15x; slowly progressive limb-girdle weakness; myalgia; in lower limbs also distal weakness; ambulation preserved; muscle biopsy: non-specific myopathic changes , many fibers with centrally located nuclei 2 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
00210170 - - - F - Germany - - - - - - HP:0011804 (Abnormality of muscle physiology); HP:0003701 (Proximal muscle weakness) 2 1 Andreas Laner
00213630 - - sibs M - United States - - - - - LGMD eosinophilic polymyositis, mild weakness 1 1 Tom Winder
00213631 - - sibs M no United States - - - - - LGMD eosinophilic polymyositis, mild weakness, hCK; CPK elevated (HP:0003236) 3 2 Tom Winder
00213632 - - - F - United States - >64y - - - LGMD - 2 1 Tom Winder
00213633 - - - M - United States - >21y - - - LGMD - 2 1 Tom Winder
00213634 - PubMed: de Paula - F;M - Brazil African-Brazilian - - - - LGMD CPK elevated (HP:0003236) 19x 2 1 Johan den Dunnen
00213635 - PubMed: de Paula - M - Brazil white - - - - 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 - - - - LGMD CPK elevated (HP:0003236) 29x 2 7 Johan den Dunnen
00213637 07720071-M2407 PubMed: Richard 1995 - - - France - - - - - LGMD - 2 1 Johan den Dunnen
00213638 - PubMed: Fanin 2004 + PubMed: Fanin 2005 - M - Italy - - - - - LGMD mild 2 1 Marina Fanin
00213639 - PubMed: Richard 1999 - - - France - - - - - LGMD - 2 1 Johan den Dunnen
00213640 - - - F - Germany - - - - - LGMD - 2 1 Gabriele Dekomien
00213641 Fams PubMed: Canki-Klain, PubMed: Milic 2005, OMIM:var0009 - - - Croatia (Hrvatska) - - - - - LGMD - 2 11 Johan den Dunnen
00213642 - - - M - Germany - - - - - LGMD - 2 1 Lab Müller-Reible
00213643 - - - M - Germany - - - - - LGMD - 2 1 Lab Müller-Reible
00213644 - PubMed: Sáenz 2005 - - - France - - - - - LGMD - 2 1 Amets Sáenz
00213645 - PubMed: Richard 1999 - - - Russia - - - - - LGMD - 2 1 Johan den Dunnen
00213646 - PubMed: Fanin 2004, PubMed: Fanin 2005, OMIM:var0009 - - - Italy - - - - - LGMD - 2 1 Marina Fanin
00213647 - PubMed: Pogoda 8 patients; estimated frequency amongst East Slavs 1/150 - - Russia - - - - - LGMD - 2 8 Johan den Dunnen
00213648 - PubMed: Fanin 2004, OMIM:var0009 - - - Albania - - - - - LGMD - 2 1 Marina Fanin
00213649 Fam13 PubMed: Canki-Klain, PubMed: Milic 2005, OMIM:var0009 2 brothers and sister F;M - Croatia (Hrvatska) - - - - - LGMD - 2 3 Johan den Dunnen
00213650 - PubMed: Todorova 2007 - F - Bulgaria - - - - - LGMD - 2 1 Johan den Dunnen
00213651 - Georgieva ESHG2007, P677 - M - Bulgaria - - - - - LGMD - 2 1 Johan den Dunnen
00213652 - Georgieva ESHG2007, P677 - M - Bulgaria - - - - - LGMD - 2 1 Johan den Dunnen
00213653 - Georgieva ESHG2007, P677 - F - Bulgaria - - - - - LGMD - 2 2 Johan den Dunnen
00213654 - Meznaric-Petrusa WMS 2002 (D.P.3.3), Journal: Meznaric-Petrusa 2002 - - - Slovenia - - - - - LGMD - 1 3 Johan den Dunnen
00213655 - PubMed: Fanin 2004, OMIM:var0009 - - - Slovenia - - - - - LGMD - 2 1 Marina Fanin
00213656 - PubMed: Fanin 2004, PubMed: Fanin 2005, OMIM:var0009 - - - Italy - - - - - LGMD - 2 1 Marina Fanin
00213657 - PubMed: Georgieva 2005 - F no Bulgaria - - - - - LGMD - 2 5 Johan den Dunnen
00213658 Pat9 PubMed: Hermanova 2005 - F - Czech Republic - >26y - - - LGMD - 2 1 Johan den Dunnen
00213659 Pat70 PubMed: Krahn 2006 - F - France - - - - - 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 - - - - - 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 - - - - - LGMD intermediate 2 1 Johan den Dunnen
00213662 Fam6 / Fam17 PubMed: Milic 2005 shared haplotypes - - Croatia (Hrvatska) - - - - - LGMD - 2 2 Johan den Dunnen
00213663 - PubMed: Fanin 2004, PubMed: Fanin 2005, OMIM:var0009 - - - Italy - - - - - LGMD - 2 1 Marina Fanin
00213664 Pat8 PubMed: Hermanova 2005 - F - Czech Republic - >26y - - - LGMD - 2 1 Johan den Dunnen
00213665 - PubMed: Todorova 2007 - F - Bulgaria - - - - - LGMD - 2 1 Johan den Dunnen
00213666 - - - M - Germany - - - - - LGMD - 2 1 Lab Müller-Reible
00213667 - PubMed: Sáenz 2005 - - - France - - - - - LGMD - 2 1 Amets Sáenz
00213668 - - - F - Germany - - - - - LGMD - 2 1 Lab Müller-Reible
00213669 Fam16 PubMed: Canki-Klain, PubMed: Milic 2005, OMIM:var0009 brother and sister F;M - Croatia (Hrvatska) - - - - - LGMD - 2 2 Johan den Dunnen
00213670 Pat69 PubMed: Krahn 2006 - F - France - - - - - LGMD - 2 1 Johan den Dunnen
00213671 Fam4 PubMed: Canki-Klain, PubMed: Milic 2005, OMIM:var0009 2 brothers and sister F;M - Croatia (Hrvatska) - - - - - LGMD - 2 3 Johan den Dunnen
00213672 - PubMed: Georgieva 2005 - M - Bulgaria - - - - - LGMD diagnosed BMD 2 2 Johan den Dunnen
00213673 - Georgieva ESHG2007, P677 - F - Bulgaria - - - - - LGMD - 2 1 Johan den Dunnen
00213674 Pat48 PubMed: Krahn 2006 - M yes France - >20y - - - LGMD moderate 4 1 Johan den Dunnen
00213675 - - - - - United States - - - - - LGMD - 2 1 Johan den Dunnen
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