All individuals with variants in gene SGCA

580 entries on 6 pages. Showing entries 1 - 100.
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00065232 - Gonzalez-Quereda ESHG2016 P10.39 family, affected mother and 2 siblings F;M - Spain - - 0 - - ? 1x muscle weakness (HP:0001324) paraspinal muscles, muscle biopsy dystrophic pattern (axial myopathy); 2x hyperCKemia (HP:0003236) 1 3 Johan den Dunnen
00072218 26944168-FamPatV2 PubMed: Liang 2016, Journal: Liang 2016 5-generation family, 5 affecteds (F, 4M), 13 unaffected heterozygous carriers M no Taiwan Taiwan >17y 0 - - LGMD-2D proximal muscle weakness (HP:0003701), calf hypertrophy (HP:0008981), loss of ambulation (HP:0002540), no cardiac involvement (-HP:0001627), no respiratory impairment (-HP:0002093) 1 5 Jamie Zeegers
00072219 26944168-FamPatV1 PubMed: Liang 2016, Journal: Liang 2016 - F no Taiwan Taiwan >19y 0 - - LGMD-2D proximal muscle weakness (HP:0003701), calf hypertrophy (HP:0008981), loss of ambulation (HP:0002540), palpitation (HP:0001962), mild respiratory impairment (HP:0002093) 1 1 Jamie Zeegers
00072220 26944168-FamPatIV2 PubMed: Liang 2016, Journal: Liang 2016 - M no Taiwan Taiwan >47y 0 - - LGMD-2D proximal muscle weakness (HP:0003701), loss of ambulation (HP:0002540), respiratory impairment (HP:0002093) 1 1 Jamie Zeegers
00072221 26944168-FamPatV3 PubMed: Liang 2016, Journal: Liang 2016 - M yes Taiwan Taiwan >08y 0 - - LGMD-2D proximal muscle weakness (HP:0003701), calf hypertrophy (HP:0008981), no loss of ambulation (-HP:0002540), no cardiac involvement (-HP:0001627), no respiratory impairment (-HP:0002093) 1 1 Jamie Zeegers
00072223 26944168-FamPatVI6 PubMed: Liang 2016, Journal: Liang 2016 - M yes - Taiwan >03y 0 - - LGMD-2D no proximal muscle weakness (-HP:0003701), calf hypertrophy (HP:0008981), no loss of ambulation (-HP:0002540), no cardiac involvement (-HP:0001627), no respiratory impairment (-HP:0002093) 1 1 Jamie Zeegers
00080961 - Trujillano et al., submitted unaffected parents - - - - - 0 - - LGMD-2D Muscular dystrophy, limb-girdle, type 2D (OMIM:608099) 1 1 Daniel Trujillano
00080964 - Trujillano et al., submitted unaffected parents - - - - - 0 - - LGMD-2D Muscular dystrophy, limb-girdle, type 2D (OMIM:608099) 1 1 Daniel Trujillano
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 1 1 Johan den Dunnen
00117365 - - - F yes Spain - - 0 - - LGMD-2D limb girdle muscle weakness (HP:0003325) 1 1 Aurelio Hernández-Laín
00117373 - - - M no Spain - - 0 - - LGMD-2D prominent scapular winging (HP:0003691), pelvic girdle muscle weakness (HP:0003749) 2 1 Aurelio Hernández-Laín
00117378 - - - M no Spain - - 0 - - LGMD-2D pelvic girdle muscle weakness (HP:0003749) 1 1 Aurelio Hernández-Laín
00132620 - - - F ? Spain Spaniard ? 0 Pedigree , MRI - LGMD-2D HP:0003327 HP:0003325 1 3 Lidia Gonzalez-Quereda
00132998 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00132999 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133002 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133003 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133004 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133005 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133006 ? - - - - Germany - - 0 - - LGMD - 3 1 Gabriele Dekomien
00133007 ? - - - - Germany - - 0 - - LGMD - 3 1 Gabriele Dekomien
00133008 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133009 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133010 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133011 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133012 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133013 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133014 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133015 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133016 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133017 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133018 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133019 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133020 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133021 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133022 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133023 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133024 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133030 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133032 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133035 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133038 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133039 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133040 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133041 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133045 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133047 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133048 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133049 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133051 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133052 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133053 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133057 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133059 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133060 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133061 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133062 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133063 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133069 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133070 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133071 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133072 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133080 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133082 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133085 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133086 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133087 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133088 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133093 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133094 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133095 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133101 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133102 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133104 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133105 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133113 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133114 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133115 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133116 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133117 ? - - - - Greece - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133127 ? - - - - Norway - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133128 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133129 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133130 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133131 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133137 ? - - - - Spain - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133141 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133142 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133145 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133146 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133147 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133153 ? {PMID19056483:Wildforster 2009} - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133155 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133158 ? {PMID19056483:Wildforster 2009} - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133161 ? {PMID19056483:Wildforster 2009} - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133164 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133165 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133167 ? - - - - Germany - - 0 - - LGMD - 1 1 Gabriele Dekomien
00133172 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
00133180 ? - - - - Germany - - 0 - - LGMD - 2 1 Gabriele Dekomien
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