All individuals with variants in gene MTM1

539 entries on 6 pages. Showing entries 1 - 100.
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Population     

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Treatment     

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Phenotype details     

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00080950 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - 0 - - CNMX Myotubular myopathy, X-linked (OMIM:310400) 1 1 Daniel Trujillano
00211482 - PubMed: Guiraud-Chaumeil 1997 - - - France - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00211483 - PubMed: Hu 1996, PubMed: Laporte 1996, PubMed: Tosch 2010 - M - - - 11m 0 - - CNM Severe, additional hypospadias 1 1 Johan den Dunnen
00211484 - PubMed: Hu 1996, PubMed: Laporte 1996; PubMed: Laporte 2000 - M - - - 3m 0 - - CNM Severe 1 1 Johan den Dunnen
00211485 - PubMed: Tanner 1999a - M - China - - 0 - - CNM Severe 1 1 Jorge Oliveira
00211486 1 PubMed: Herman 1999 - M - - - >7y 0 - - CNM Severe 1 1 Jorge Oliveira
00211487 2 PubMed: Herman 1999 - M - - - >2y 0 - - CNM Mild 1 1 Jorge Oliveira
00211488 48 PubMed: Herman 2002 - M - United States - - 0 - - CNM Severe 1 1 Jorge Oliveira
00211489 49 PubMed: Herman 2002 - M - United States - - 0 - - CNM Severe 1 1 Jorge Oliveira
00211490 3 PubMed: Herman 1999 - M - - - >4y 0 - - CNM Severe 1 1 Jorge Oliveira
00211491 - PubMed: Tanner 1999a - M - Australia - - 0 - - CNM Severe 1 1 Jorge Oliveira
00211492 - PubMed: Tanner 1999a - M - United Kingdom (Great Britain) - - 0 - - CNM Severe 1 1 Jorge Oliveira
00211493 - PubMed: Laporte 1997 - M - - - - 0 - - CNM ? 1 1 Jorge Oliveira
00211494 - PubMed: Biancalana 2003 - M - - - >5y 0 - - CNM Moderate; walk-17m 1 1 Jorge Oliveira
00211495 - PubMed: Herman 1999, PubMed: Herman 2002 - M - United States - - 0 - - CNM Severe 1 1 Jorge Oliveira
00211496 - PubMed: Biancalana 2003 - M - - - - 0 - - CNM ? 1 1 Jorge Oliveira
00211497 - PubMed: Laporte 2000 - M - - - - 0 - - CNM Severe 1 1 Jorge Oliveira
00211498 - PubMed: Laporte 1997 - M - - - - 0 - - CNM ? 1 1 Jorge Oliveira
00211499 - PubMed: Biancalana 2003 - M - - - - 0 - - CNM Severe 1 1 Jorge Oliveira
00211500 - PubMed: Laporte 2000 - M - - - - 0 - - CNM ? 1 1 Jorge Oliveira
00211501 - PubMed: Herman 1999, PubMed: Herman 2002 - M - United States - >15y 0 - - CNM Mild; walk 1 2 Jorge Oliveira
00211502 - PubMed: Biancalana 2003 - M - - - - 0 - - CNM Severe 1 1 Jorge Oliveira
00211503 27 PubMed: Herman 2002 - M - United States - - 0 - - CNM Severe 1 1 Jorge Oliveira
00211504 - - - M no United Kingdom (Great Britain) - 10m 0 - - CNM Severe 1 1 Jorge Oliveira
00211505 - PubMed: Laporte 1997 - M - - - - 0 - - CNM ? 1 1 Jorge Oliveira
00211506 - PubMed: Tanner 1999a - M - Norway - - 0 - - CNM severe, neonatal death 1 1 Jorge Oliveira
00211507 - PubMed: Tanner 1999a - M - Lebanon - - 0 - - CNM severe, neonatal death 1 1 Jorge Oliveira
00211508 38 PubMed: Herman 2002 - M - United States - - 0 - - CNM Severe 1 1 Jorge Oliveira
00211509 - - - M - Portugal - - 0 - - CNM - 1 1 Jorge Oliveira
00211510 - PubMed: Laporte 1997 - M - - - - 0 - - CNM - 1 1 Jorge Oliveira
00211511 - PubMed: Laporte 1997 - M - - - - 0 - - CNM Severe 1 1 Jorge Oliveira
00211512 - PubMed: Laporte 2000 - M - - - - 0 - - CNM Severe 1 1 Jorge Oliveira
00211513 - PubMed: Buj-Bello 1999 - M - - - - 0 - - CNM Severe 1 1 Jorge Oliveira
00211514 - PubMed: Buj-Bello 1999 - M - - - - 0 - - CNM Severe 1 1 Jorge Oliveira
00211515 patient in publication PubMed: Tachi 2001 - M - - - - 0 - - CNM - 2 1 Jorge Oliveira
00211516 - PubMed: Buj-Bello 1999 - F - - - 3m 0 - - CNM Severe 1 1 Jorge Oliveira
00211517 - PubMed: Biancalana 2003 - M - - - - 0 - - CNM Severe 1 1 Jorge Oliveira
00211518 - PubMed: Tanner 1999a - M - Italy - - 0 - - CNM severe, neonatal death 1 1 Jorge Oliveira
00211519 - PubMed: Tanner 1999a - M - Finland - - 0 - - CNM severe, neonatal death 1 1 Jorge Oliveira
00211520 - PubMed: Tanner 1999a - M - United States - - 0 - - CNM severe, neonatal death 1 1 Jorge Oliveira
00211521 - PubMed: Flex 2002 - F - Italy - - 0 - - CNM Mild 1 1 Jorge Oliveira
00211522 - PubMed: Laporte 1997 - M - - - 7m 0 - - CNM Severe 1 1 Jorge Oliveira
00211523 - PubMed: Tanner 1999a - M - France - - 0 - - CNM severe, neonatal death 1 1 Jorge Oliveira
00211524 - PubMed: Buj-Bello 1999 - M - - - 15m 0 - - CNM Severe 1 1 Jorge Oliveira
00211525 - - - M - Portugal - - 0 - - CNM - 1 1 Jorge Oliveira
00211526 2 PubMed: Herman 2002 - M - United States - - 0 - - CNM Severe 1 1 Jorge Oliveira
00211527 13 PubMed: Tsai 2005 - M - Japan - - 0 - - CNM Severe 1 1 Jorge Oliveira
00211528 - PubMed: Laporte 1997 - M - - - >3y 0 - - CNM Mild or moderate 1 1 Jorge Oliveira
00211529 - PubMed: de Gouyon 1997 - M - - - >3y 0 - - CNM Mild 1 1 Jorge Oliveira
00211530 - PubMed: de Gouyon 1997 - M - - - - 0 - - CNM - 1 1 Jorge Oliveira
00211531 - PubMed: de Gouyon 1997 - M - - - >2y 0 - - CNM Mild 1 1 Jorge Oliveira
00211532 - PubMed: Biancalana 2003 - M - - - - 0 - - CNM ? 1 1 Jorge Oliveira
00211533 - PubMed: Laporte 1997, PubMed: Barth 1998, PubMed: Laporte 2000 - M - - - >54y 0 - - CNM Mild or moderate 1 1 Jorge Oliveira
00211534 - PubMed: Tanner 1999a - M - United States - - 0 - - CNM Severe 1 1 Jorge Oliveira
00211535 - PubMed: Laporte 1997 - M - - - 11m 0 - - CNM Severe 1 1 Jorge Oliveira
00211536 - PubMed: Laporte 2000 - M - - - - 0 - - CNM Severe 1 1 Jorge Oliveira
00211537 - PubMed: Biancalana 2003 - M - - - - 0 - - CNM ? 1 1 Jorge Oliveira
00211538 - PubMed: Biancalana 2003 - M - - - - 0 - - CNM Severe 1 1 Jorge Oliveira
00211539 - PubMed: de Gouyon 1997 - M - United States - >4y 0 - - CNM Severe 1 1 Jorge Oliveira
00211540 - PubMed: de Gouyon 1997 - M - United States - 4y 0 - - CNM Severe 1 1 Jorge Oliveira
00211541 - PubMed: de Gouyon 1997 - M - United States - >3y 0 - - CNM Severe 1 1 Jorge Oliveira
00211542 - PubMed: de Gouyon 1997 - M - United States - >9y 0 - - CNM Severe 1 1 Jorge Oliveira
00211543 - PubMed: Biancalana 2003 - M - - - - 0 - - CNM ? 1 1 Jorge Oliveira
00211544 - PubMed: Biancalana 2003 - M - - - - 0 - - CNM Severe 1 1 Jorge Oliveira
00211545 - PubMed: Biancalana 2003 - M - - - - 0 - - CNM Severe 1 1 Jorge Oliveira
00211546 - PubMed: Laporte 1997, PubMed: Tanner 1998 - M - - - 6m 0 - - CNM Severe 1 1 Jorge Oliveira
00211547 - PubMed: Laporte 1997 - M - - - 1m 0 - - CNM Severe 1 1 Jorge Oliveira
00211548 - PubMed: Laporte 1997 - M - - - <10d 0 - - CNM Severe 1 1 Jorge Oliveira
00211549 - PubMed: Tanner 1999a - M - - - - 0 - - CNM Severe 1 1 Jorge Oliveira
00211550 - PubMed: Laporte 2000 - M - - - >1y 0 - - CNM Severe 1 1 Jorge Oliveira
00211551 - PubMed: Buj-Bello 1999 - M - - - 17d 0 - - CNM Severe 1 1 Jorge Oliveira
00211552 Patient 1 PubMed: Laporte 2000 - M - - - - 0 - - CNM ? 1 1 Jorge Oliveira
00211553 - PubMed: Tanner 1999a - M - United Kingdom (Great Britain) Great-Britain - 0 - - CNM Severe 1 1 Jorge Oliveira
00211554 39 PubMed: Herman 2002 - M - United States - - 0 - - CNM Severe 1 1 Jorge Oliveira
00211555 20 PubMed: Herman 2002 - M - United States - - 0 - - CNM Severe 1 1 Jorge Oliveira
00211556 - PubMed: Biancalana 2003 brother affected M - - - >3y 0 - - CNM Moderate; walk-2y 1 1 Jorge Oliveira
00211557 - PubMed: Biancalana 2003 - M - - - >2y6m 0 - - CNM Severe; 24h respiratory support 1 1 Jorge Oliveira
00211558 - PubMed: Laporte 1997 - M - - - - 0 - - CNM Severe 1 1 Jorge Oliveira
00211559 - PubMed: Biancalana 2003 - M - - - - 0 - - CNM Severe 1 1 Jorge Oliveira
00211560 - PubMed: Schultz 2005 - - - - - - 0 - - CNM ? 1 1 Jorge Oliveira
00211561 - PubMed: de Gouyon 1997 - M - - - 3y 0 - - CNM Severe 1 1 Jorge Oliveira
00211562 - - - M - Portugal - - 0 - - CNM - 1 1 Jorge Oliveira
00211563 - PubMed: Tanner 1999a - M - Canada - - 0 - - CNM severe, neonatal death 1 1 Jorge Oliveira
00211564 - PubMed: Tanner 1999a - M - United Kingdom (Great Britain) Great-Britain - 0 - - CNM severe, neonatal death 1 1 Jorge Oliveira
00211565 - PubMed: Laporte 1997 - M - - - - 0 - - CNM ? 1 1 Jorge Oliveira
00211566 - PubMed: de Gouyon 1997 - M - United States - - 0 - - CNM Severe 1 1 Jorge Oliveira
00211567 - PubMed: de Gouyon 1997 - M - - - - 0 - - CNM Severe 1 1 Jorge Oliveira
00211568 - PubMed: Laporte 1997 - M - - - - 0 - - CNM ? 1 1 Jorge Oliveira
00211569 - PubMed: de Gouyon 1997 - M - United States - 8y 0 - - CNM Severe 1 1 Jorge Oliveira
00211570 - PubMed: Biancalana 2003 - M - - - - 0 - - CNM Severe 1 1 Jorge Oliveira
00211571 patient in publication Oberle 1998, PubMed: Laporte 2000 - M - - - - 0 - - CNM Severe 1 1 Jorge Oliveira
00211572 - PubMed: Laporte 2000 - M - - - - 0 - - CNM Severe 1 1 Jorge Oliveira
00211573 - PubMed: Laporte 1997 - M - - - >7y 0 - - CNM Severe 1 1 Jorge Oliveira
00211574 - PubMed: Biancalana 2003 - M - - - - 0 - - CNM Severe 1 1 Jorge Oliveira
00211575 - PubMed: Tanner 1999a - M - United States - - 0 - - CNM severe, neonatal death 1 1 Jorge Oliveira
00211576 - PubMed: Biancalana 2003 - M - - - >18m 0 - - CNM Severe 1 1 Jorge Oliveira
00211577 - PubMed: Herman 1999, PubMed: Herman 2002 - M - United States - - 0 - - CNM Severe 1 2 Jorge Oliveira
00211578 - PubMed: Yu 2003 - M - - - >2y6m 0 - - CNM Mild 1 1 Jorge Oliveira
00211579 - PubMed: Yu 2003 - M - - - >26y 0 - - CNM Mild 1 1 Jorge Oliveira
00211580 - PubMed: Yu 2003 - M - - - >30y 0 - - CNM Mild 1 1 Jorge Oliveira
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