All individuals with variants in gene TRIM32

146 entries on 2 pages. Showing entries 1 - 100.
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AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00208554 - - - F - Germany - - - - - - HP:0008981 (Calf muscle hypertrophy) 1 1 Andreas Laner
00208793 - - - F - Germany - - - - - - HP:0011805 (Abnormality of muscle morphology); HP:0003198 (Myopathy) 1 1 Andreas Laner
00213604 - PubMed: Frosk 2002, PubMed: Frosk 2005 41 patients Hutterite families Schmiede-, Darius- and Lehrerleut; common ancestor - - - - - - - - LGMD Schmiede-, Darius- and Lehrerleut 2 41 Johan den Dunnen
00213605 - PubMed: Schoser 2005, PubMed: Jerusalem 1973 Hutterite, South Dakota; 2 brothers; founder mutation M - United States - - - - - MYOP - 2 2 Johan den Dunnen
00213606 - PubMed: Schoser 2005, PubMed: Muller-Felber 1999 2 affected brothers; common ancestor M - Germany - - - - - MYOP - 2 2 Johan den Dunnen
00213607 - PubMed: Chiang 2006, OMIM:var0002 4 affecteds (2M, 2F) - - Israel Bedouin Arab - - - - BBS - 2 4 Johan den Dunnen
00213608 - PubMed: Saccone 2007 - M - Italy - - - - - LGMD progressive difficulty rising from floor, climbing stairs, walking; wheelchair bound 64y; FVC 0.41 2 1 Johan den Dunnen
00213609 - PubMed: Saccone 2007 - M - Italy - >15y - - - LGMD muscle cramps after exercise, scapular winging, no calve hypertrophy; CPK raised 4-5x 1 1 Johan den Dunnen
00213610 - PubMed: Saccone 2007 - F - Croatia (Hrvatska) - >44y - - - LGMD weakness (proximal, slow progressive), muscle waisting, respirtory weakness, keratitis (chronic); CPK normal 2 1 Johan den Dunnen
00213611 - PubMed: Saccone 2007 5 siblings died of cardiovascular events M - Italy - >73y - - - LGMD calf hypertrophy, mild ankle contractions,scapular winging, hypertension, typeII diabetes; CPK raised 2.5x 1 1 Johan den Dunnen
00213612 19303295.1 PubMed: Cossee 2009 - F - Turkey - - - - - LGMD 37y-diffuse myalgia, arthralgia, mild proximal lower limb deficit; 42y-walking difficulties, proximal weakness 4 limbs; wheelchair bound >51y; CPK 744 2 1 Johan den Dunnen
00213613 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213614 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213615 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213616 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213617 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213618 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213620 25351777-Pat1 PubMed: Nectoux 2015 3-generation family, 1 affected, unaffected parents M - France - - - - - LGMD progressive muscle weakness, difficulties in lifting weights, scapular winging and waddling gait; CPK 400; no intellectual disability 2 1 Juliette Nectoux
00213621 25351777-Fam2Pat2 PubMed: Nectoux 2015 2-generation family, 1 affected, unaffected parents M - France - - - - - LGMD late onset mild cognitive impairment 1 1 Aleksandra Nadaj Pakleza
00219541 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219574 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219579 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219596 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219614 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 2 1 Madhuri Hegde
00219692 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219719 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219754 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - Healthy/Control, LGMD - 1 1 Madhuri Hegde
00219918 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219940 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220076 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220090 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220104 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220197 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220214 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220270 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220292 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220299 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220367 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220374 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220391 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220424 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220431 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220461 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220464 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220479 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220614 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 2 1 Madhuri Hegde
00220678 30564623-Pat PubMed: Nallamilli 2018 - M - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220735 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220753 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220781 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220794 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220797 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220814 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220837 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220848 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220879 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220928 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220939 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220979 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221011 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221154 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221164 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221191 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221240 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221572 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221621 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221626 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221654 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221685 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221715 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221777 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221821 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 2 1 Madhuri Hegde
00221930 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221954 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221989 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221998 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00222064 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00222076 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 2 1 Madhuri Hegde
00222104 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00222181 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00222259 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00222260 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00222284 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00222414 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00222449 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00222467 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00222536 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00222567 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00222580 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00222641 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00222676 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00222732 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00226094 - PubMed: Ten Dam 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Netherlands - - - - - LGMD proximal muscle weakness lower limbs (HP:0008994) and in disease course upper limbs (HP:0008997) and shoulder girdle (HP:0003547); cardiac involvement; elevated serum CK 125U/L (HP:0003236); 41y loss ability to walk (HP:0002540); 64y non-invasive ventilation 1 1 Ieke Ginjaar
00269600 - - - M - - - - - - - - Hemiparesis (HP:0001269); Generalized amyotrophy (HP:0003700); Necrotizing myopathy (HP:0008978); onset symptoms 7-8y 1 1 Andreas Laner
00294730 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00305860 P159 PubMed: Yu 2017 analysis 180 LGMD patients M - China - - - - - LGMD mild (MRC grade ≥4/5); lower limbs more severe than upper limbs; elevated serum CK (max. 698 IU/L); biopsy dystrophic; non-rimmed vacuole;   1 1 Johan den Dunnen
00313968 Pat1 PubMed: Johnson 2019 - - - - - - - - - LGMD - 1 1 Johan den Dunnen
00313969 Pat2 PubMed: Johnson 2019 - - - - - - - - - LGMD - 1 1 Johan den Dunnen
00313970 Pat3 PubMed: Johnson 2019 - - - - - - - - - LGMD - 1 1 Johan den Dunnen
00313971 Pat4 PubMed: Johnson 2019 - - - - - - - - - LGMD - 1 1 Johan den Dunnen
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