All individuals with variants in gene TPM2

80 entries on 1 page. Showing entries 1 - 80.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00037255 - - - - - Germany - - - - - ? suspected Nemaline Myopathie, hypotonia, developmental delay 1 1 Andreas Laner
00037256 - - - - - Germany - - - - - ? suspected Nemaline Myopathie, hypotonia, developmental delay 1 1 Andreas Laner
00154919 23401156-c1 PubMed: Beck 2013 - - - United States - - - - - DA - 1 1 Johan den Dunnen
00154920 23401156-j1 PubMed: Beck 2013 - - - United States - - - - - DA - 1 1 Johan den Dunnen
00154921 23401156-k1 PubMed: Beck 2013 - - - United States - - - - - DA - 1 1 Johan den Dunnen
00154922 23401156-l1 PubMed: Beck 2013 - - - United States - - - - - DA - 1 1 Johan den Dunnen
00154923 23401156-m1 PubMed: Beck 2013 - - - United States - - - - - DA - 1 1 Johan den Dunnen
00154924 23401156-m2 PubMed: Beck 2013 - - - United States - - - - - DA - 1 1 Johan den Dunnen
00154925 23401156-m3 PubMed: Beck 2013 - - - United States - - - - - DA - 1 1 Johan den Dunnen
00154926 23401156-m4 PubMed: Beck 2013 - - - United States - - - - - DA - 1 1 Johan den Dunnen
00154927 23401156-m5 PubMed: Beck 2013 - - - United States - - - - - DA - 1 1 Johan den Dunnen
00154928 23401156-n1 PubMed: Beck 2013 - - - United States - - - - - DA - 1 1 Johan den Dunnen
00154929 23401156-o1 PubMed: Beck 2013 - - - United States - - - - - DA - 1 1 Johan den Dunnen
00154930 23401156-y1 PubMed: Beck 2013 - - - United States - - - - - DA - 1 1 Johan den Dunnen
00154931 23401156-ab1 PubMed: Beck 2013 - - - United States - - - - - DA - 1 1 Johan den Dunnen
00213492 19047562.1 PubMed: Ohlsson 2008 - M - Sweden - - - - - NEM CAP disease 1 1 Johan den Dunnen
00213493 - PubMed: Clarke 2009 - F - Australia - - - - - NEM CAP disease; congenital fibre type disproportion; walk-18m 1 1 Johan den Dunnen
00213494 19047562.3 PubMed: Ohlsson 2008 - F - Sweden - - - - - NEM CAP disease 1 1 Johan den Dunnen
00213495 11738357.1 PubMed: Donner 2002 - F - Netherlands - 51y - - - NEM mild form, asymmetric limb muscle involvement, mild facial and neck flexor weakness; deceased from respiratory causes; wheelchair bound 48y 1 1 Johan den Dunnen
00213496 11738357.2m PubMed: Brandis 2008 mother of 11738357.2s F - Bosnia and Herzegovina - >45y - - - NEM myopathic facies, high-arched palate, weak neck flexors, assymetric limb involvement; never run 1 1 Johan den Dunnen
00213497 11738357.2s PubMed: Brandis 2008 son of 11738357.2m M - Bosnia and Herzegovina - - - - - NEM were very weak (Fig. 6). Her limb involvement was asymmetric; delayed; walk 1 1 Johan den Dunnen
00213498 - PubMed: Donner 2002 - - - - - - - - - Healthy/Control - 1 66 Johan den Dunnen
00213499 - PubMed: Donner 2002 - - - - - - - - - Healthy/Control - 1 72 Johan den Dunnen
00213500 - PubMed: Donner 2002 - - - - - - - - - Healthy/Control - 1 8 Johan den Dunnen
00213501 - PubMed: Donner 2002 - - - - - - - - - Healthy/Control - 1 22 Johan den Dunnen
00213502 - PubMed: Sung 2003 4 generation family, 14 affecteds - - - - - - - - DA - 1 14 Johan den Dunnen
00213503 17339586.II2 PubMed: Tajsharghi 2007, PubMed: Ochala 2007 mother of 17339586.III1 F - Sweden - >65y - - - DA distal joint contractures at birth, progressive muscle weakness proximal and distal muscles 1 1 Johan den Dunnen
00213504 17339586.III1 PubMed: Tajsharghi 2007, PubMed: Ochala 2007 daugther of 17339586.II2 F - Sweden - >28y - - - DA distal joint contractures at birth, muscle weakness proximal and distal muscles 1 1 Johan den Dunnen
00213505 17434307.1 PubMed: Lehtokari 2007 - M - - - >36y - - - NEM CAP disease; congenital muscle weakness, myopathic facies, dysarthria, hyperlordosis, hypotonia; 33y acute respiratory insufficiency, hypoventilation, nosocomial pneumonia; walk-24m 1 1 Johan den Dunnen
00213506 17846275.II2 PubMed: Nilsson 2008 mother of 17846275.III1 F - Sweden - >66y - - - NEM neonatal respiratory insufficiency; progressive muscle weakness, muscle weakness predominantly proximal muscles, neck flexors, facial muscles, foot extensors 1 1 Johan den Dunnen
00213507 17846275.III1 PubMed: Nilsson 2008 daugther of 17846275.II2 F - Sweden - >35y - - - NEM CAP disease; neonatal hypotonia, feeding difficulties poor sucking; moderate muscle weakness predominant proximal muscles, neck flexors, facial muscles; facial diplegia with bilateral ptosis 1 1 Johan den Dunnen
00213508 19047562.2 PubMed: Ohlsson 2008 - M - Sweden - - - - - NEM CAP disease 1 1 Johan den Dunnen
00213509 - - - - - (United States) SE Asian - - - - ? arthrogryposis 1 1 Tom Winder
00213510 - - - - - United States - - - - - ? - 1 1 Tom Winder
00213511 - - - F - United States - - - - - NEM - 1 1 Tom Winder
00213512 - J Goto ASHG 2010 A905 3-generation family, 7 affecteds, affected father proband deceased M - Japan - >64y - - - NEM slowly progressive proximal muscle atrophy, weakness, dysphagia, rigid spine, dilated cardiomyopathy, type 2 repiratory failure 1 7 Johan den Dunnen
00213513 - - - F - United States - - - - - ? - 1 1 Tom Winder
00213514 - - - - - United States - - - - - DA - 3 1 Tom Winder
00213515 - - - - - United States - - - - - DA - 1 1 Tom Winder
00213516 - - - F - Canada French-Canadian - - - - NEM rods seen in muscle biopsy; CPK 540 1 1 Tom Winder
00213517 - - - M - United States - - - - - arthrogryposis - 1 1 Tom Winder
00213518 - - - - - United States - - - - - arthrogryposis - 1 1 Tom Winder
00213519 19155175-III12 PubMed: Monnier 2009 3-generation family, 4 affecteds M yes Algeria - - - - - ? major hypotonia, distal amyotrophy, delayed motor milestones, scoliosis, pes varus, contractures proximal/distal joint, no head/sitting control, multiple pterygia affecting neck, axilla and antecubital/popliteal area; convergent squint, ptosis and cryptorchidism 2 4 Johan den Dunnen
00213520 19155175-Fam PubMed: Monnier 2009 3-generation family, 4 unaffected carrier parents and 2 sisters - yes Algeria - - - - - Healthy/Control - 1 6 Johan den Dunnen
00213521 - PubMed: Donner 2002 - - - - - - - - - Healthy/Control - 2 78 Johan den Dunnen
00213522 - PubMed: Donner 2002 - - - - - - - - - Healthy/Control - 2 4 Johan den Dunnen
00213523 - PubMed: Donner 2002 - - - - - - - - - Healthy/Control - 2 44 Johan den Dunnen
00213524 - PubMed: Donner 2002 - - - - - - - - - Healthy/Control - 2 8 Johan den Dunnen
00213525 - - - - - United States - - - - - NEM - 1 1 Tom Winder
00213526 - - - F - United States - - - - - CMYO4A;CFTD hypotonia, difficulty swallowing, ptosis, contractures, scoliosis. 1 1 Tom Winder
00213527 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213528 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213529 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213530 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213531 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213532 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213533 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213534 - - - M - United States - - - - - MYOP mild proximal weakness, difuse hypotonia, abnormal gait 1 1 Tom Winder
00213535 - - - M - United States Hispanic - - - - DA distal contractures, rocker-bottom feet 1 1 Tom Winder
00213536 Fam19 - - F - - - - - - - DA distal arthrogryposis with congenital contractures of ankles, fingers, and thumbs, tethered spinal cord, vertebral segmentation anomaly, dysmorphic facial features; 13m unable raise arms above shoulder 1 1 Minttu Marttila
00213537 Fam 20 - - F - - - - - - - DA hypotonia, joint contractures, and bilateral club foot (at birth); ; cannot walk without support 1 1 Minttu Marttila
00213538 Fam1 (2693) - - M - - - - - - - NEM proximal muscle weakness with onset subsequent to diagnosis of hypothyroidism (66y); ; wheelchair bound >70y 1 1 Minttu Marttila
00213539 Fam22 (5932, 5933) - affected mother/son F - - - - - - - MYOP myopathicfacies, high-arched palate, neck flexors very weak, limb involvement asymmetric; never run 1 2 Minttu Marttila
00213540 Fam26 (20-393) - - M - - - - - - - CMYO4A;CFTD scoliosis, mild weakness of neck flexors, deltoids, finger extensors of hands, minimal contractures of fingers and Achilles tendons; walk-2y 1 1 Minttu Marttila
00213541 Fam29 - - M - - - - - - - CMYO4A;CFTD facial weakness, high-arched palate 1 1 Minttu Marttila
00213542 Fam35 (3143) - - F - - - - - - - NEM distal weakness lowerlimbs; wheelchair bound >40y 1 1 Minttu Marttila
00213543 Fam37 (3653) - - F - - - - - - - NEM proximal muscles weaker than distal, Achilles contractures, ambulant with waddling gait (58y); wheelchair bound >58y 1 1 Minttu Marttila
00213544 - - - M - United States - - - - - DA contractures of lower joints 1 1 Tom Winder
00213545 Pat1/Pat2 PubMed: Clarke 2012, Journal: Clarke 2015, PubMed: Punetha 2016 - M - - - - - - - CMYO4A;CFTD see paper; ...; CPK normal 1 1 Jaya Punetha
00213546 22832343-Pat2 PubMed: Clarke 2012, Journal: Clarke 2015 2-generation family, 1 affected, unaffected non-carreir parents - no - white - - - - CMYO4A;CFTD see paper; ... 1 1 Johan den Dunnen
00231292 - - - F - - - - - - - - HP:0100022 (Abnormality of movement); HP:0012638 (Abnormality of nervous system physiology); HP:0001337 (Tremor); HP:0002169 (Clonus); HP:0040081 (Abnormal levels of creatine kinase in blood) 1 1 Andreas Laner
00307182 D13-1137 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - - - - DA arthrogryposis multiplex congenita; autosomal dominant inheritance 1 1 Gianina Ravenscroft
00307221 D17-1613 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - - - - DA distal arthrogryposis 1 1 Gianina Ravenscroft
00307226 D17-2016 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - - - - DA congenital onset; wrist flexion contracture; elbow flexion contracture; knee flexion contracture; rocker bottom foot 1 1 Gianina Ravenscroft
00314484 - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - LGMD - 1 1 Johan den Dunnen
00398955 Fam52Pat58 PubMed: Natera-de Benito 2021 patient F - Spain - - - - - MYOP motor delay; 2y-walk, run; no ptosis; no ophthalmoplegia; facial weakness; flexor weakness; no proximal weaksness, no distal weakness; 17y-nocturnal noninvasive ventilation; scoliosis (17y-surgery); 27y-no cardiac involvement 1 1 Johan den Dunnen
00399021 P53 PubMed: Gonzalez-Quereda 2020 patient F - Spain - - - - - NMD muscle biopsy congenital fiber type disproportion 1 1 Johan den Dunnen
00419176 Fam6Pat6 PubMed: Gurgel-Giannetti 2022 - M - Brazil - - - - - NEM - 1 1 Johan den Dunnen
00419480 9167 PubMed: Marinakis 2021 - F - Greece - - - - - ? myopathy, hypermobility, joint contractures, scoliosis 1 1 Jan Traeger-Synodinos
00442699 Pat71 PubMed: Westra 2019 family, 2 affected sisters, healthy mother mosaic (0.10-0.15) F - - - - - - - NMD Proximal myopathy with intermittent ptosis; increase in fiber size variation 1 2 Johan den Dunnen
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.