All individuals with variants in gene FHL1

77 entries on 1 page. Showing entries 1 - 77.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 5 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 5 1 Yu Sun
00137093 patient2 - unaffected parents M no United States black, Indian 81y 0 - - ? adult onset, progressive upper and lower limb proximal weakness, scapular winging, arrhythmia, artificial ventilation, CK elevation >10x; muscle biopsy shows myopathic and dystrophic features 1 1 Eugen-Matthias Strehle
00143185 patient1 - 2-generation family, parents and sister not affected F - United States - - 0 - - ? muscle weakness and wasting in legs, later in arms, severe scapular winging, hyperlordosis, ankle contractures, waddling gait, CK 650 U/L; EMG myopathic pattern; muscle biopsy shows myopathic features and lobulated fibres: no heart and lung involvement 1 1 Eugen-Matthias Strehle
00205451 - PubMed: Tarpey 2009 - M - - - - 0 - - MRX;IDX - 1 2 Johan den Dunnen
00205452 - PubMed: Tarpey 2009 - M - - - - 0 - - MRX;IDX - 1 1 Johan den Dunnen
00205453 - PubMed: Gueneau 2009 6-generation family, 9 affecteds M - - Europe >41y 0 - - EDMD muscle weakness/wasting UL (scapulo-humeral) / LL (pelvic, distal); rigid spine, stiff neck, contractures elbow/ankle/knees/hips, scoliosis; elevated serum creatine phosphokinase (HP:0003236) 6x 1 9 Johan den Dunnen
00205454 - PubMed: Gueneau 2009 4-generation family, 1 affected M - - Europe >30y 0 - - EDMD muscle weakness/wasting UL (scapular) / LL (pelvic); rigid spine, stiff neck, contractures elbow/ankle/knees, muscle hypertrophy, dysphonia due to vocal cord palsy, swallowing difficulties; elevated serum creatine phosphokinase (HP:0003236) 2.3-3.7x 1 1 Johan den Dunnen
00205455 - PubMed: Gueneau 2009 3-generation family, 2 affecteds M - - Europe >35y 0 - - EDMD muscle weakness/wasting UL (scapular, scapula alata) / LL (pelvic, peroneal); rigid spine, stiff neck, contractures elbow/ankle, scoliosis (arthrodesisat 19y); elevated serum creatine phosphokinase (HP:0003236) 4.5x 1 2 Johan den Dunnen
00205456 - PubMed: Gueneau 2009 4-generation family, 3 affecteds M - Japan - >23y 0 - - EDMD muscle weakness/wasting UL (scapular, humeral) / LL (pelvic, peroneal), rigid spine, stiff neck; contractures ankle/hips, ptosis; ; elevated serum creatine phosphokinase (HP:0003236) 2x 1 3 Johan den Dunnen
00205457 - PubMed: Gueneau 2009 4-generation consanguineous family, 5 affecteds M - Saudi Arabia - >18y 0 - - EDMD muscle weakness/wasting UL (scapular) / LL (peroneal); rigid spine, stiff neck, contractures elbow/ankle/wrists/knees, scoliosis, dysphonia due to vocal cord palsy; no elevated serum creatine phosphokinase (-HP:0003236) 1 5 Johan den Dunnen
00205458 - PubMed: Gueneau 2009 - M - - Europe >26y 0 - - EDMD muscle weakness/wasting UL (humeral) / LL (peroneal); contractures elbow/ankle, dysphonia due to vocal cord palsy; elevated serum creatine phosphokinase (HP:0003236) 2.3x 1 1 Johan den Dunnen
00205459 - PubMed: Gueneau 2009 4-generation family, 1 affected M - - Europe >54y 0 - - EDMD muscle weakness/wasting LL (pelvic); stiff neck, contractures ankle/shoulders, muscle hypertrophy (paravertebral and shoulders); elevated serum creatine phosphokinase (HP:0003236) 2.5x 1 1 Johan den Dunnen
00205460 - PubMed: Wilhelmesen 1996, FamC 4-generation family, 16 affecteds (8 male, 8 female) M - United States Italy - 0 - - SPM 7/8 wheelchair bound 35.9y (±4.0y), 1 walking with a cane 63y 1 8 Johan den Dunnen
00205461 - PubMed: Wilhelmesen 1996, FamC 4-generation family, 16 affecteds (8 male, 8 female) F - United States Italy - 0 - - SPM 4/8 wheelchair bound 54.8y (±19y), 4 walking (33-74y) 1 8 Johan den Dunnen
00205462 - PubMed: Windpassinger 2008 7-generation family, 12 affecteds M - Australia - - 0 - - XMPMA;EDMD-6 - 1 4 Johan den Dunnen
00205463 - PubMed: Windpassinger 2008 male family 18179888 M - Australia - - 0 - - XMPMA;EDMD-6 EMG myopathic; early athletic habitus; elevated serum creatine phosphokinase (HP:0003236) 620 1 1 Johan den Dunnen
00205464 - PubMed: Schwarzmeier 1971, PubMed: Windpassinger 2008 male family 18179888 M - Australia - - 0 - - XMPMA;EDMD-6 EMG myopathic; early athletic habitus; musle biopsy myopathic; cardiomyopathy with arrhythmia; neck and Achilles tendons short; elevated serum creatine phosphokinase (HP:0003236) 500-900 1 1 Johan den Dunnen
00205465 - PubMed: Windpassinger 2008 male family 18179888 M - Australia - - 0 - - XMPMA;EDMD-6 EMG myopathic; early athletic habitus; musle biopsy myopathic; respiratory failure; neck and Achilles tendons short; elevated serum creatine phosphokinase (HP:0003236) 800-1200 1 1 Johan den Dunnen
00205466 - PubMed: Windpassinger 2008 male family 18179888 M - Australia - - 0 - - XMPMA;EDMD-6 EMG myopathic; early athletic habitus; neck and Achilles tendons short; elevated serum creatine phosphokinase (HP:0003236) 780 1 1 Johan den Dunnen
00205467 - PubMed: Windpassinger 2008 male family 18179888 M - Australia - - 0 - - XMPMA;EDMD-6 EMG myopathic; MRI muscle selective atrophy, bent spine; early athletic habitus; musle biopsy myopathic; hypertrophic cardiomyopathy; neck and Achilles tendons short; elevated serum creatine phosphokinase (HP:0003236) 700 1 1 Johan den Dunnen
00205468 - PubMed: Windpassinger 2008 male family 18179888 M - Australia - - 0 - - XMPMA;EDMD-6 EMG myopathic; musle biopsy myopathic; ; hypertrophic cardiomyopathy; ; neck and Achilles tendons short; elevated serum creatine phosphokinase (HP:0003236) 550 1 1 Johan den Dunnen
00205469 - PubMed: Windpassinger 2008 male family 18179888 M - Australia - - 0 - - XMPMA;EDMD-6 EMG myopathic; MRI muscle selective atrophy, bent spine; early athletic habitus; musle biopsy myopathic; normal heart; neck and Achilles tendons short; elevated serum creatine phosphokinase (HP:0003236) 400-1774 1 1 Johan den Dunnen
00205470 - PubMed: Windpassinger 2008 male family 18179888 M - Australia - - 0 - - XMPMA;EDMD-6 MRI muscle selective atrophy, bent spine; early athletic habitus; musle biopsy myopathic; hypertrophic cardiomyopathy; neck and Achilles tendons short; elevated serum creatine phosphokinase (HP:0003236) 620 1 1 Johan den Dunnen
00205471 - PubMed: Windpassinger 2008 5-generation family, 4 affecteds M - United Kingdom (Great Britain) - - 0 - - MD EMG normal; early athletic habitus; musle biopsy myopathic; respiratory failure; neck and Achilles tendons short; elevated serum creatine phosphokinase (HP:0003236) 1300 1 4 Johan den Dunnen
00205472 - PubMed: Schessl 2008, OMIM:var0004 - F - United States - - 0 - - RBM classic early onset severe RBM; 8y tracheostomy, G-tube, no antigravity strength; normal ECHO; 3y-lost ability to walk (HP:0006957) 1 1 Johan den Dunnen
00205473 - PubMed: Schessl 2008, OMIM:var0005 - F - United States - - 0 - - RBM classic early onset severe RBM; 6y loss all antigravity strength, death respiratory failure; normal ECHO; 4y6m-lost ability to walk (HP:0006957) 1 1 Johan den Dunnen
00205474 - PubMed: Schessl 2008, OMIM:var0006 mother of 18274675.3; 3-generation family F - United States - - 0 - - RBM normal ECHO; 40y-lost ability to walk (HP:0006957) 1 1 Johan den Dunnen
00205475 - PubMed: Schessl 2008, OMIM:var0006 son of 18274675.m3; 3-generation family M - United States - >21y 0 - - RBM 11y ventilatory support; 18y dilated cardiomyopathy; reduced fractional shortening; 8y-lost ability to walk (HP:0006957) 1 1 Johan den Dunnen
00205476 - PubMed: Schessl 2008, OMIM:var0007 mother of 18274675.4; 2-generation family F - United States - - 0 - - RBM normal ECHO 1 1 Johan den Dunnen
00205477 - PubMed: Schessl 2008, OMIM:var0007 son of 18274675.m4; 2-generation family M - United States - >18y 0 - - RBM progressive weakness and contractures; normal ECHO; 16y-lost ability to walk (HP:0006957) 1 1 Johan den Dunnen
00205478 - PubMed: Kiyomoto 1995 - F - Japan - - 0 - - RBM - 1 1 Johan den Dunnen
00205479 - PubMed: Ohsawa 2007 daugther of 19171836.5 F - Japan - - 0 - - RBM - 1 1 Johan den Dunnen
00205480 - PubMed: Ohsawa 2007 mother of 19171836.4 F - Japan - - 0 - - RBM - 1 1 Johan den Dunnen
00205481 - PubMed: Kobayashi 1992 - F - Japan - - 0 - - RBM - 1 1 Johan den Dunnen
00205482 - PubMed: Kiyomoto 1995 - M - Japan - - 0 - - RBM - 1 1 Johan den Dunnen
00205483 - PubMed: Tiffin 2013 3-generation family, 3 affected males, 2 unaffected heterozygous carrier females M no New Zealand - - 0 - - EDMD proportionate short stature, facial dysmorphism, pulmonary valvular stenosis, thoracic scoliosis, brachydactyly, pectus deformities, genital abnormalities 1 3 Johan den Dunnen
00205484 - - family, 6 affected F no Iran - - 0 - - MYOP - 1 6 Zohreh Fattahi
00205485 - PubMed: Pen 2013 4-generation family, 4 affected males (3 generations), 3 unaffected heterozygous carrier females M no Denmark - - 0 - - EDMD facila dysmorphy, pulmonary artery hypoplasia 1 4 Johan den Dunnen
00220081 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00220338 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00220437 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00220496 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00220558 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 2 1 Madhuri Hegde
00220699 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00220714 30564623-Pat PubMed: Nallamilli 2018 - M - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00220723 30564623-Pat PubMed: Nallamilli 2018 - M - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00220814 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00221087 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00221271 30564623-Pat PubMed: Nallamilli 2018 - M - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00221319 30564623-Pat PubMed: Nallamilli 2018 - M - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00221761 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00221832 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00221891 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00221905 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00221915 30564623-Pat PubMed: Nallamilli 2018 - M - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00222040 30564623-Pat PubMed: Nallamilli 2018 - M - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00222068 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00222143 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00289134 P3 PubMed: Evilä 2016 - - - United Kingdom (Great Britain) - - 0 - - MYOP scapuloperoneal myopathy 1 1 Johan den Dunnen
00295331 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00302992 Pat37 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Focal epilepsy, temporal lobe epilepsy; age onset adolescent 1 1 Johan den Dunnen
00314291 - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - 0 - - LGMD - 1 1 Johan den Dunnen
00314292 - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - 0 - - LGMD - 1 1 Johan den Dunnen
00314536 patient PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - 0 - - LGMD - 1 1 Johan den Dunnen
00316225 - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - 0 - - CM - 1 4 Johan den Dunnen
00316226 - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - 0 - - CM - 1 1 Johan den Dunnen
00316227 - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - 0 - - CM - 1 1 Johan den Dunnen
00316228 - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - 0 - - CM - 1 1 Johan den Dunnen
00316229 - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - 0 - - CM - 1 1 Johan den Dunnen
00316230 - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - 0 - - CM - 1 1 Johan den Dunnen
00316231 - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - 0 - - CM - 1 1 Johan den Dunnen
00316232 - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - 0 - - CM - 1 1 Johan den Dunnen
00316233 - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - 0 - - CM - 1 1 Johan den Dunnen
00316234 - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - 0 - - CM - 1 1 Johan den Dunnen
00316235 - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - 0 - - CM - 1 1 Johan den Dunnen
00361990 Pat12 PubMed: Saat 2021 - M no Turkey - - 0 - - RBM Muscle weakness HP:0001324 1 1 Ibrahim Sahin
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