All individuals with variants in gene PYROXD1

84 entries on 1 page. Showing entries 1 - 84.
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00183244 FamA/PatD2 PubMed: O'Grady 2016, PubMed: Cummings 2017 2-generation family, 2 affected, brothers unaffected heterozygous carrier parents M no - white - - - - MFM 5y-difficulty running; 20y-slowly progressive muscle weakness; 24y-unable to climb stairs from, slow walk with cane; symmetrical limb weakness (HP:0001324) (UL, LL, axial; P, D); reduced or absent hyporeflexia (HP:0001265); Achilles contractures (HP:0001771); joint contracture 5th finger (HP:0009183); joint hypermobility (HP:0001382) distal laxity, resolved with age; facial weakness (HP:0002058); no ptosis (-HP:0000508); no ophthalmoplegia (-HP:0000602), high arched palate (HP:0000218), dental malocclusion (HP:0000689), elongated face; 12y-dysphagia (HP:0002015), improved; no chewing difficulties (-HP:0030193); nasal speech (HP:0001611); 20y-mild thoracic scoliosis (HP:0002650); no spinal rigidity (-HP:0003306); pectus excavatum (HP:0000767); scapular winging (HP:0003691); pes cavus (HP:0001761); no pet planus (-HP:0001763); 15y-restrictive lung disease (HP:0002091); no recurrent infections (-HP:0002783); 27y-abnormal septal motion and low normal ejection fraction; no elevated CK (-HP:0040081); histology shows internalized nuclei, central cones, myofibrillar inclusions, sarcomeric disorganization, thin filament accumulations and nemaline rods 2 2 Johan den Dunnen
00183245 FamBPatII2 PubMed: O'Grady 2016 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes Turkey - - - - - MFM onset 8y, stable in childhood, mild progression from teenage years, increasing difficulty with stairs; symmetrical limb weakness (HP:0001324) (UL,LL, axial; P UL, D LL); reduced or absent hyporeflexia (HP:0001265); no Achilles contractures (-HP:0001771); no joint contracture 5th finger (- HP:0009183); no joint hypermobility (-HP:0001382); facial weakness (HP:0002058); no ptosis (-HP:0000508); no ophthalmoplegia (-HP:0000602), no high arched palate (-HP:0000218); dysphagia (HP:0002015); no chewing difficulties (-HP:0030193); nasal speech (HP:0001611); no scoliosis (-HP:0002650); no spinal rigidity (-HP:0003306); no pectus excavatum (HP:0000767); mild scapular winging (HP:0003691); no pes cavus (-HP:0001761); pes planus (HP:0001763); no restrictive lung disease (-HP:0002091); no recurrent infections (-HP:0002783); no cardiac disease; elevated CK (HP:0040081), 3x 1 2 Johan den Dunnen
00183246 FamCPatII1 PubMed: O'Grady 2016 2-generation family, affected sister/brother, unaffected heterozygous carrier parents M no Iran Iran:Jewish - - - - MFM congenital onset hypotonia, mild gross motor delay, 20m-walk, 6y-muscle weakness, increasing difficulty climbing stairs; symmetrical limb weakness (HP:0001324) (symmetrical; UL, LL, axial); reduced or absent hyporeflexia (HP:0001265); Achilles contractures (HP:0001771); joint contracture 5th finger (HP:0009183); joint hypermobility (HP:0001382) elbow and metocarpophalyngeal joints; facial weakness (HP:0002058); no ptosis (-HP:0000508); no ophthalmoplegia (-HP:0000602), high arched palate (HP:0000218); surgical correction int. exotropia (HP:0000577); no dysphagia (-HP:002015); chewing difficulties (HP:0030193); nasal speech (HP:0001611); 7y mild scoliosis (-HP:0002650); spinal rigidity (HP:0003306), thoracolumbar; pectus excavatum (HP:0000767); mild scapular winging (HP:0003691); no pes cavus (-HP:0001761); no pes planus -HP:0001763); no restrictive lung disease (-HP:0002091); recurrent infections (HP:0002783); mild to moderate pulmonic insufficiency; no elevated CK (-HP:0040081) 2 2 Johan den Dunnen
00183247 FamDPatII1 PubMed: O'Grady 2016 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F yes Turkey - - - - - MFM onset 2y, ambulant 22y, difficulty running and climbing, frequent falls, slowly progressive weakness from 20y; symmetrical limb weakness (HP:0001324) (symmetrical; UL, LL; axial P); reduced or absent hyporeflexia (HP:0001265); no Achilles contractures (-HP:0001771); no joint contracture 5th finger (-HP:0009183); no joint hypermobility (-HP:0001382); facial weakness (HP:0002058); mild ptosis (HP:0000508); no ophthalmoplegia (-HP:0000602), high arched palate (HP:0000218); elongated face (HP:0000276); dysphagia (HP:002015); no chewing difficulties (-HP:0030193); nasal speech (HP:0001611); no scoliosis (-HP:0002650); no spinal rigidity (-HP:0003306); no pectus excavatum (-HP:0000767); no scapular winging (-HP:0003691); no pes cavus (-HP:0001761); pes planus (HP:0001763); no restrictive lung disease (-HP:0002091); recurrent infections (HP:0002783);no cardiac disease; elevated CK (HP:0040081) 3x 1 2 Johan den Dunnen
00183248 FamEPatII2 PubMed: O'Grady 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Turkey - - - - - MFM onset 4y, easy fatigue, frequent falls, difficulty on stairs, slowly progressive, increasing difficulty with stairs; symmetrical limb weakness (HP:0001324) (symmetrical; UL, LL; P, D); reduced or absent hyporeflexia (HP:0001265); no Achilles contractures (-HP:0001771); no joint contracture 5th finger (-HP:0009183); no joint hypermobility (-HP:0001382); facial weakness (HP:0002058); no ptosis (-HP:0000508); no ophthalmoplegia (-HP:0000602), high arched palate (HP:0000218); dysphagia (HP:002015); no chewing difficulties (-HP:0030193); nasal speech (HP:0001611); no scoliosis (-HP:0002650); no spinal rigidity (-HP:0003306); no pectus excavatum (-HP:0000767); no scapular winging (-HP:0003691); no pes cavus (-HP:0001761); no pes planus -HP:0001763); no restrictive lung disease (-HP:0002091); recurrent infections (HP:0002783); mild mitral and tricuspid insufficiency (HP:0001653); no elevated CK (-HP:0040081); histology shows internalized nuclei, central cones 2 1 Johan den Dunnen
00225599 30345904-Fam1288Pat1 PubMed: Saha 2018, Journal: Saha 2018 7-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Sudan Arab - - - - LGMD see paper; ..., CK level normal; 37y-loss of ambulation; 46y-no cardiac/respiratory complications 1 1 Johan den Dunnen
00225607 30515627-Fam1P1 PubMed: Sainio 2019 3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M no Finland - - - - - LGMD see paper; ..., adult-onset 2 1 Johan den Dunnen
00225608 30515627-Fam2P2 PubMed: Sainio 2019 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M no Finland - - - - - LGMD see pape;; ..., adult onset 1 2 Johan den Dunnen
00225609 30515627-Fam3P3/P4 PubMed: Sainio 2019 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M no Finland - - - - - LGMD see paper; .., adult onset 1 2 Johan den Dunnen
00226274 FamAPatII2 PubMed: O'Grady 2016 younger brother M no - European - - - - MFM onset 8y, stable in childhood, mild progression from teenage years, increasing difficulty with stairs; symmetrical limb weakness (HP:0001324) (UL, LL, axial; P, D); reduced or absent hyporeflexia (HP:0001265); no Achilles contractures (-HP:0001771); no joint contracture 5th finger (-HP:0009183); joint hypermobility (HP:0001382) distal laxity, partial patella subluxations; facial weakness (HP:0002058); no ptosis (-HP:0000508); no ophthalmoplegia (-HP:0000602); high arched palate (HP:0000218); dental malocclusion (HP:0000689), elongated face; dysphagia (HP:0002015), plus nasal regurgitation from 9y, surgery for VPI; no chewing difficulties (-HP:0030193); nasal speech (HP:0001611); no scoliosis (-HP:0002650); no spinal rigidity (-HP:0003306); no pectus excavatum (-HP:0000767); no scapular winging (-HP:0003691); no pes cavus (-HP:0001761); pes planus (HP:0001763); no restrictive lung disease (-HP:0002091); no recurrent infections (-HP:0002783); no cardiac disease; elevated CK (HP:0040081) 5x 2 1 Johan den Dunnen
00226313 FamBPatII3 PubMed: O'Grady 2016 brother M yes Turkey - - - - - MFM onset 10y, still ambulant 31y; symmetrical limb weakness (HP:0001324) (symmetrical; UL, LL, axial; P); reduced or absent hyporeflexia (HP:0001265); no Achilles contractures (-HP:0001771); no joint contracture 5th finger (- HP:0009183); no joint hypermobility (-HP:0001382); facial weakness (HP:0002058); mild ptosis (HP:0000508); no ophthalmoplegia (-HP:0000602), no high arched palate (-HP:0000218); micrognathia and retrognathia (HP:0000308); no dysphagia (-HP:0002015); no chewing difficulties (-HP:0030193); nasal speech (HP:0001611); no scoliosis (-HP:0002650); no spinal rigidity (-HP:0003306); no pectus excavatum (HP:0000767); mild scapular winging (HP:0003691); no pes cavus (-HP:0001761); pes planus (HP:0001763); restrictive lung disease (HP:0002091); no recurrent infections (-HP:0002783); no cardiac disease; elevated CK (HP:0040081), 4x; histology shows internalized nuclei, central cones, myofibrillar inclusions, sarcomeric disorganization, thin filament accumulations and nemaline rods 1 1 Johan den Dunnen
00226314 FamCPatII2 PubMed: O'Grady 2016 brother M no Iran Iran:Jewish - - - - MFM infantile onset hypotonia, 13m-walk, stable strength, difficulty climbing stairs; symmetrical limb weakness (HP:0001324) (symmetrical; UL, LL, axial); reduced or absent hyporeflexia (HP:0001265); no Achilles contractures (-HP:0001771); no joint contracture 5th finger (- HP:0009183); joint hypermobility (HP:0001382) mild at elbow, wrist, and metocarpophalyngeal joints; facial weakness (HP:0002058); no ptosis (-HP:0000508); no ophthalmoplegia (-HP:0000602), high arched palate (HP:0000218); no dysphagia (-HP:0002015); chewing difficulties (HP:0030193); nasal speech (HP:0001611); no scoliosis (-HP:0002650); spinal rigidity (HP:0003306), thoracolumbar; no pectus excavatum (-HP:0000767); mild asymmetric scapular winging (HP:0003691); no pes cavus (-HP:0001761); no pes planus -HP:0001763); no restrictive lung disease (-HP:0002091); recurrent infections (HP:0002783); no cardiac disease; no elevated CK (-HP:0040081); histology shows internalized nuclei, central cones, myofibrillar inclusions, sarcomeric disorganization 2 1 Johan den Dunnen
00226315 FamDPatII3 PubMed: O'Grady 2016 brother M yes Turkey - - - - - MFM onset 2y6m, 17y ambulant, difficulty climbing, stable in childhood; symmetrical limb weakness (HP:0001324) (symmetrical; UL, LL; axial P); reduced or absent hyporeflexia (HP:0001265); no Achilles contractures (-HP:0001771); no joint contracture 5th finger (-HP:0009183); no joint hypermobility (-HP:0001382); facial weakness (HP:0002058); mild ptosis (HP:0000508); no ophthalmoplegia (-HP:0000602), high arched palate (HP:0000218); elongated face (HP:0000276); dysphagia (HP:002015); no chewing difficulties (-HP:0030193); nasal speech (HP:0001611); no scoliosis (-HP:0002650); no spinal rigidity (-HP:0003306); no pectus excavatum (-HP:0000767); no scapular winging (-HP:0003691); no pes cavus (-HP:0001761); pes planus (HP:0001763); no restrictive lung disease (-HP:0002091); no recurrent infections (-HP:0002783);no cardiac disease; elevated CK (HP:0040081) 2x; histology shows internalized nuclei, central cones 1 1 Johan den Dunnen
00227926 private email contact me for details - F - - - - - - - ? - 1 1 Johan den Dunnen
00288202 Pat12 PubMed: Lee 2019 - - - United States - - - - - ? heart murmur, muscle cramps, difficulty walking, myalgia, skeletal muscle atrophy, gowers sign, progressive muscle weakness, myopathy, generalized amyotrophy, intention tremor, pain, waddling gait, decreased testosterone 1 1 Johan den Dunnen
00295510 161209 - - M yes Turkey - - - - - MYOP Abnormal palate morphology; Elevated serum creatine kinase; Hyperlordosis; Axial muscle weakness; Proximal muscle weakness in upper limbs 1 1 Andreas Laner
00314408 - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - LGMD - 1 4 Johan den Dunnen
00336098 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00341466 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00341467 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00341468 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00341469 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 2 BRIDGES consortium
00341470 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00341471 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00341472 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00341473 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00341474 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00341475 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00341476 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00341477 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 2 BRIDGES consortium
00341478 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00341479 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00341945 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - cancer, breast - 1 3 BRIDGES consortium
00348678 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - cancer, breast - 1 1 BRIDGES consortium
00348679 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - cancer, breast - 1 2 BRIDGES consortium
00348680 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - cancer, breast - 1 1 BRIDGES consortium
00348681 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - cancer, breast - 1 2 BRIDGES consortium
00348682 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - cancer, breast - 1 1 BRIDGES consortium
00348683 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - cancer, breast - 1 1 BRIDGES consortium
00348684 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - cancer, breast - 1 1 BRIDGES consortium
00348685 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - cancer, breast - 1 1 BRIDGES consortium
00348686 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - cancer, breast - 1 1 BRIDGES consortium
00348687 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - cancer, breast - 1 1 BRIDGES consortium
00348688 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - cancer, breast - 1 1 BRIDGES consortium
00348689 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - cancer, breast - 1 2 BRIDGES consortium
00348690 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - cancer, breast - 1 1 BRIDGES consortium
00348691 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - cancer, breast - 1 2 BRIDGES consortium
00348692 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - cancer, breast - 1 1 BRIDGES consortium
00348693 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - cancer, breast - 1 4 BRIDGES consortium
00348694 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - cancer, breast - 1 1 BRIDGES consortium
00349203 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - cancer, breast - 1 2 BRIDGES consortium
00349377 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - cancer, breast - 1 1 BRIDGES consortium
00353595 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - cancer, breast - 1 4 BRIDGES consortium
00353596 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - cancer, breast - 1 1 BRIDGES consortium
00353597 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - cancer, breast - 1 1 BRIDGES consortium
00353598 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - cancer, breast - 1 3 BRIDGES consortium
00353599 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - cancer, breast - 1 1 BRIDGES consortium
00353600 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - cancer, breast - 1 7 BRIDGES consortium
00353601 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - cancer, breast - 1 1 BRIDGES consortium
00353602 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - cancer, breast - 1 2 BRIDGES consortium
00353603 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - cancer, breast - 1 1 BRIDGES consortium
00353604 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - cancer, breast - 1 3 BRIDGES consortium
00353605 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - cancer, breast - 1 1 BRIDGES consortium
00353606 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - cancer, breast - 1 4 BRIDGES consortium
00353607 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - cancer, breast - 1 7 BRIDGES consortium
00353608 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - cancer, breast - 1 3 BRIDGES consortium
00353979 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00354153 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 5 BRIDGES consortium
00358371 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 3 BRIDGES consortium
00358372 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 2 BRIDGES consortium
00358373 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00358374 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 3 BRIDGES consortium
00358375 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00358376 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 7 BRIDGES consortium
00358377 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00358378 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 2 BRIDGES consortium
00358379 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 2 BRIDGES consortium
00358380 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00358381 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00358382 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 2 BRIDGES consortium
00358383 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 7 BRIDGES consortium
00358384 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 3 BRIDGES consortium
00398957 Fam54Pat60 PubMed: Natera-de Benito 2021 patient F - Spain - - - - - MYOP weakness; 1y6m-walk; no ptosis; no ophthalmoplegia; facial weakness; flexor weakness; proximal weaksness, distal weakness; scoliosis (no surgery); 20y-no cardiac involvement 2 1 Johan den Dunnen
00448529 patient - - M no India - - - - - MYOP delay in motor milestones, fatigable proximal limb weakness, difficulty to get up from squatting position, difficulty in doing overhead activities, toe walking with frequent falls, chewing and swallowing difficulties 1 1 Gautham Arunachal
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