All individuals with variants in gene POGLUT1

46 entries on 1 page. Showing entries 1 - 46.
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Disease     
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Variants     
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00000201 - - - - no Switzerland white - - - - Healthy/Control - 1 63 Susan Treves
00000202 - - - - no Switzerland white - - - - MHS1 - 1 57 Susan Treves
00305560 FamPatII1 PubMed: Servián-Morilla 2016 3-generation family, 4 affected sibs (2F, 2M), unaffected heterozygous carrier parents/relatives M yes Spain - - - - - LGMD lower limbs proximal MRC 2, lower limbs distal MRC 5, upper limbs proximal MRC 4, upper limbs distal MRC 5, CK level normal, scapular winging, FVC 0.29, 50y-wheelchair bound 1 4 Johan den Dunnen
00314391 - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - LGMD - 1 4 Johan den Dunnen
00314392 - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - LGMD - 1 2 Johan den Dunnen
00314393 - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - LGMD - 1 2 Johan den Dunnen
00314394 - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - LGMD - 1 2 Johan den Dunnen
00395545 patient PubMed: Hanneken 2011, PubMed: Basmanav 2014 patient - - Germany - - - - - DDD4 - 1 1 Johan den Dunnen
00395546 patient PubMed: Basmanav 2014 patient - - Denmark - - - - - DDD4 - 1 1 Johan den Dunnen
00395547 patient PubMed: Basmanav 2014 patient - - Switzerland - - - - - DDD4 - 1 1 Johan den Dunnen
00395548 patient PubMed: Basmanav 2014 patient - - Germany - - - - - DDD4 - 1 1 Johan den Dunnen
00395549 patient PubMed: Basmanav 2014 patient - - Germany - - - - - DDD4 - 1 1 Johan den Dunnen
00395550 FamGPatI1/II1 PubMed: Hanneken 2011, PubMed: Basmanav 2014 2-generation family, affected father/son M - Germany - - - - - DDD4 - 1 2 Johan den Dunnen
00395551 patient PubMed: Basmanav 2014 patient - - Germany - - - - - DDD4 - 1 1 Johan den Dunnen
00395552 patient PubMed: Basmanav 2014 patient - - Germany - - - - - DDD4 - 1 1 Johan den Dunnen
00395553 FamHPatI1/II1/II2 PubMed: Hanneken 2011, PubMed: Basmanav 2014 2-generation family, affected mother/2 daughters F - Germany - - - - - DDD4 - 1 3 Johan den Dunnen
00395554 patient PubMed: Basmanav 2014 patient - - Germany - - - - - DDD4 - 1 1 Johan den Dunnen
00395555 patient PubMed: Mauerer 2010, PubMed: Basmanav 2014 patient F - Germany - - - - - DDD4 - 1 1 Johan den Dunnen
00395622 Fam1PatII2 PubMed: Servian-Morilla 2020 sister F - Spain - - - - - LGMD lower limbs proximal MRC 2, lower limbs distal MRC 5, upper limbs proximal MRC 4, upper limbs distal MRC 5, CK level normal, scapular winging, FVC 0.22, 44y-wheelchair bound 1 1 Johan den Dunnen
00395623 Fam1PatII4 PubMed: Servian-Morilla 2020 sister F - Spain - - - - - LGMD lower limbs proximal MRC 2, lower limbs distal MRC 5, upper limbs proximal MRC 4, upper limbs distal MRC 5, CK level normal, scapular winging, FVC 0.91, not wheelchair bound 1 1 Johan den Dunnen
00395624 Fam1PatII5 PubMed: Servian-Morilla 2020 brother M - Spain - - - - - LGMD lower limbs proximal MRC 2, lower limbs distal MRC 5, upper limbs proximal MRC 3, upper limbs distal MRC 5, CK level raised x3, scapular winging, not wheelchair bound 1 1 Johan den Dunnen
00395625 Fam2PatII1 PubMed: Servian-Morilla 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Spain - - - - - LGMD lower limbs proximal MRC 2, lower limbs distal MRC 5, upper limbs proximal MRC 3-4, upper limbs distal MRC 5, CK level normal, scapular winging, FVC >0.80, 22y-wheelchair bound; elbow contracture, myopathic facies, arched palate 2 1 Johan den Dunnen
00395626 Fam3PatII2 PubMed: Servian-Morilla 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Spain - - - - - LGMD lower limbs proximal MRC 2, lower limbs distal MRC 5, upper limbs proximal MRC 2, upper limbs distal MRC 5, CK level raised x2, scapular winging, FVC 0.45, 33y-wheelchair bound; ankle contracture, calf hypertrophy, scoliosis, hyperlordosis 1 1 Johan den Dunnen
00395627 Fam4PatII1 PubMed: Servian-Morilla 2020 2-generation family, 3 affected sisters, unaffected heterozygous carrier parents F - Bulgaria - - - - - LGMD lower limbs proximal MRC 4-, lower limbs distal MRC 5, upper limbs proximal MRC 4, upper limbs distal MRC 5, CK level normal, scapular winging, FVC 0.72, not wheelchair bound 1 1 Johan den Dunnen
00395628 Fam4PatII2 PubMed: Servian-Morilla 2020 sister F - Bulgaria - - - - - LGMD lower limbs proximal MRC 2, lower limbs distal MRC 5, upper limbs proximal MRC 4, upper limbs distal MRC 5, CK level normal, scapular winging, FVC 0.53, not wheelchair bound 1 1 Johan den Dunnen
00395629 Fam4PatII3 PubMed: Servian-Morilla 2020 sister F - Bulgaria - - - - - LGMD lower limbs proximal MRC 2, lower limbs distal MRC 5, upper limbs proximal MRC 4, upper limbs distal MRC 5, CK level normal, scapular winging, FVC 0.76, not wheelchair bound 1 1 Johan den Dunnen
00395630 Fam5PatII1 PubMed: Servian-Morilla 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Italy - - - - - LGMD lower limbs proximal MRC 2-3, lower limbs distal MRC 5, upper limbs proximal MRC 4, upper limbs distal MRC 5, CK level normal, scapular winging, FVC >0.80, not wheelchair bound; hyperlordosis 1 1 Johan den Dunnen
00395631 Fam6PatII4 PubMed: Servian-Morilla 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Iran - - - - - LGMD lower limbs proximal MRC 2-3, lower limbs distal MRC 5, upper limbs proximal MRC 5, upper limbs distal MRC 5, CK level raised x6, no scapular winging, FVC 0.86, not wheelchair bound 1 1 Johan den Dunnen
00395632 Fam7PatII1 PubMed: Servian-Morilla 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Germany - - - - - LGMD lower limbs proximal MRC 2-3, lower limbs distal MRC 5, upper limbs proximal MRC 3-4, upper limbs distal MRC 5, CK level raised x3, scapular winging, FVC 0.85, not wheelchair bound 1 1 Johan den Dunnen
00395633 Fam8PatII1 PubMed: Servian-Morilla 2020 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - United States - - - - - LGMD lower limbs proximal MRC 2-3, lower limbs distal MRC 4, upper limbs proximal MRC 4, upper limbs distal MRC 5, CK level raised x4, scapular winging, FVC 0.86, 38y-wheelchair bound 2 1 Johan den Dunnen
00395634 Fam8PatII2 PubMed: Servian-Morilla 2020 brother M - United States - - - - - LGMD lower limbs proximal MRC 2-3, lower limbs distal MRC 5, upper limbs proximal MRC 2-3, upper limbs distal MRC 4-5, CK level raised x10, scapular winging, FVC 0.27, 32y-wheelchair bound 2 1 Johan den Dunnen
00395635 Fam9PatII1 PubMed: Servian-Morilla 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes United Arab Emirates - - - - - LGMD lower limbs proximal MRC 2-3, lower limbs distal MRC 4-5, upper limbs proximal MRC 2, upper limbs distal MRC 5, CK level raised x2, scapular winging, FVC 0.41, 13y-wheelchair bound; nystagmus, retinitis pigmentosa 1 1 Johan den Dunnen
00395639 - PubMed: Ralser 2019 - F - - white - - - - DDD4 no hyperpigmentation face, neck; hyperpigmentation trunk, axillae, extremeties, inframammary region, hands, feet, elbows, wrists, inguinal folds, genitals 1 1 Johan den Dunnen
00395640 - PubMed: Ralser 2019 - - - - - - - - - DDD4 hyperpigmentation 1 1 Johan den Dunnen
00395641 - PubMed: Ralser 2019 - - - - - - - - - DDD4 hyperpigmentation 1 1 Johan den Dunnen
00395642 - PubMed: Ralser 2019 - F - - white - - - - DDD4 no hyperpigmentation axillae, inframammary region, feet, elbows, wrists, inguinal folds, genitals; hyperpigmentation face, neck, extremeties, hands 1 1 Johan den Dunnen
00395643 - PubMed: Ralser 2019 - - - - - - - - - DDD4 hyperpigmentation 1 1 Johan den Dunnen
00395644 - PubMed: Ralser 2019 - F - - white - - - - DDD4 no hyperpigmentation face, neck, hands, feet, elbows, wrists; hyperpigmentation trunk, axillae, extremeties, inframammary region, inguinal folds, genitals 1 1 Johan den Dunnen
00395645 - PubMed: Ralser 2019 - F - - white - - - - DDD4 no hyperpigmentation face, neck, hands, feet, genitals; hyperpigmentation trunk, axillae, extremeties, inframammary region, elbows, wrists, inguinal folds 1 1 Johan den Dunnen
00395646 - PubMed: Ralser 2019 - - - - - - - - - DDD4 hyperpigmentation 1 1 Johan den Dunnen
00395647 - PubMed: Ralser 2019 - M - Turkey - - - - - DDD4 no hyperpigmentation axillae, axillae, inframammary region, elbows, wrists, inguinal folds, genitals; hyperpigmentation face, neck, extremeties, hands, feet 1 1 Johan den Dunnen
00395648 - PubMed: Ralser 2019 - F - - white - - - - DDD4 no hyperpigmentation face, neck, axillae, hands, feet, elbows, wrists, genitals; hyperpigmentation trunk, extremeties, inframammary region, inguinal folds 1 1 Johan den Dunnen
00395649 - PubMed: Ralser 2019 - - - - - - - - - DDD4 hyperpigmentation 1 1 Johan den Dunnen
00395650 - PubMed: Ralser 2019 - F - - white - - - - DDD4 no hyperpigmentation face, neck, axillae, inframammary region, hands, feet, elbows, wrists, inguinal folds, genitals; hyperpigmentation trunk, extremeties 1 1 Johan den Dunnen
00395651 - PubMed: Ralser 2019 - F - - white - - - - DDD4 no hyperpigmentation trunk, trunk, axillae, hands, feet, elbows, wrists, inguinal folds, genitals; hyperpigmentation face, neck, extremeties, inframammary region 1 1 Johan den Dunnen
00395652 - PubMed: Ralser 2019 - M - - white - - - - DDD4 no hyperpigmentation face, neck, axillae, hands, feet, elbows, inguinal folds, genitals; hyperpigmentation trunk, extremeties, inframammary region, wrists 1 1 Johan den Dunnen
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