All individuals with variants in gene FKTN

230 entries on 3 pages. Showing entries 1 - 100.
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00000008 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000031 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00000064 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000068 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000081 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000085 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000097 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00146856 20961758-Pat1 PubMed: Yis 2010 - F - Greece;Croatia (Hrvatska) - - 0 - - WWS CPK level 2236-6685 2 2 Johan den Dunnen
00151425 19342235.b PubMed: Puckett 2009 older brother of 07-141; mother Japanese, father Caucasian M no Japan;United States Asia;white - 0 - - CMD 4y-subtle abnormalities, incl. mild hypotonia, decreased muscle strength, calf hypertrophy, partial Gowers’ maneuver, decreased deep tendon reflexes, incipient lumbar lordosis, pectus excavatum; 5y- waddling gait; CPK level 4068-9955; roll over-6m, sit 8m, walk 12m 2 1 Tom Winder
00151426 ? PubMed: Zanoteli 2002 mother Japanese, father Japanese/Brazilian M - Japan;Brazil - - 0 - - MDC - 1 1 Johan den Dunnen
00151427 ? PubMed: Kobayashi 2001 3 affecteds - - Japan - - 0 - - MDC severe 2 3 Johan den Dunnen
00151428 ? PubMed: Kobayashi 2001 4 affecteds - - Japan - - 0 - - MDC - 1 4 Johan den Dunnen
00151429 ? PubMed: Matsumoto 2005 5 affecteds - - Japan - - 0 - - MDC - 1 5 Johan den Dunnen
00151430 ? PubMed: Akiyama 2006 - M - Japan - >14y 0 - - MDC mild 1 1 Johan den Dunnen
00151431 ? PubMed: Matsumoto 2005 3 affecteds - - Japan - - 0 - - MDC - 2 3 Johan den Dunnen
00151432 ? PubMed: Kobayashi 1998, PubMed: Kondo-Iida 1999 80 patients common ancestor, variant present in 125/144 87% FCMD alleles (D9S2105-D9S2170-D9S2171-D9S2107 as 138-192-147-183); RNA near undetectable - - Japan - - 0 - - MDC - 2 80 Johan den Dunnen
00151433 ? PubMed: Kobayashi 2001 19 affecteds - - Japan - - 0 - - MDC - 2 19 Johan den Dunnen
00151434 ? PubMed: Matsumoto 2005 42 homozygous patients - - Japan - - 0 - - MDC - 2 42 Johan den Dunnen
00151435 ? - - F - United States - - 0 - - WWS - 2 1 Tom Winder
00151436 Pat2 PubMed: Beltran-Valero 2003 - - - - - - 0 - - WWS - 2 1 Johan den Dunnen
00151437 Pat1 PubMed: Beltran-Valero 2003 first cousin parents M - Turkey - - 0 - - WWS - 2 1 Johan den Dunnen
00151438 ? PubMed: Silan 2003 first-cousin parents (Oguz) M - Turkey - 10d 0 - - MDC severe; CPK level 4214 2 1 Johan den Dunnen
00151439 ? PubMed: Kobayashi 1998, PubMed: Kondo-Iida 1999 - F - Japan - - 0 - - MDC severe 2 1 Johan den Dunnen
00151440 ? PubMed: Kobayashi 1998, PubMed: Kondo-Iida 1999 father US (UK/German ancestry) F - Japan;United States white; Asian - 0 - - MDC severe 2 1 Johan den Dunnen
00151441 ? PubMed: Kondo-Iida 1999 - F - Japan - - 0 - - MDC severe 2 1 Johan den Dunnen
00151442 ? PubMed: Kondo-Iida 1999 - M - Japan - - 0 - - MDC - 2 1 Johan den Dunnen
00151443 ? PubMed: Kondo-Iida 1999 - F - Japan - - 0 - - MDC severe, microphthalmia 2 1 Johan den Dunnen
00151444 ? PubMed: Kondo-Iida 1999 2 affecteds - - Japan - - 0 - - MDC severe 2 2 Johan den Dunnen
00151445 ? PubMed: Kobayashi 2001 - F - Japan - - 0 - - MDC severe 2 1 Johan den Dunnen
00151446 ? PubMed: Kobayashi 2001 - M - Japan - - 0 - - MDC severe 2 1 Johan den Dunnen
00151447 ? PubMed: Kobayashi 2001 - M - Japan - - 0 - - MDC severe 2 1 Johan den Dunnen
00151448 ? PubMed: Matsumoto 2005 - - - Japan - - 0 - - MDC - 2 1 Johan den Dunnen
00151449 ? PubMed: Matsumoto 2005 - - - Japan - - 0 - - MDC - 2 1 Johan den Dunnen
00151450 ? PubMed: Matsumoto 2005 - - - Japan - - 0 - - MDC - 2 1 Johan den Dunnen
00151451 ? PubMed: Matsumoto 2005 - - - Japan - - 0 - - MDC - 2 1 Johan den Dunnen
00151452 ? PubMed: Puckett 2009 younger brother of 19342235.b; mother Japanese, father Caucasian M no Japan;United States Asia;white - 0 - - LGMD 13m-failure to thrive, elevated transaminases, elevated CK; 21m-muscle weakness incipient pectus excavatum, modified Gowers’ maneuver, decreased deep tendon reflexes, cognitive/motor development normal, cardiac/ophthalmology evaluations normal; 2y-calf hypertrophy; CPK level 1865-12131 2 1 Tom Winder
00151453 ? PubMed: Cao 2001 - - - United States - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00151454 ? PubMed: Kobayashi 1998, PubMed: Watanabe 2005 - - - Japan - - 0 - - Healthy/Control - 1 15 Johan den Dunnen
00151455 ? PubMed: Kobayashi 1998, PubMed: Watanabe 2005 - - - Korea, South (Republic) - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00151456 ? PubMed: Kobayashi 1998, PubMed: Watanabe 2005 - - - Mongolia - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00151457 ? PubMed: Kobayashi 1998, PubMed: Watanabe 2005 - - - China - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00151458 ? - - - - Japan - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00151459 ? PubMed: Kobayashi 2001 - - - Japan - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00151460 ? - - - - Japan - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00151461 ? - - - - Japan - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00151462 ? - - - - Japan - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00151463 ? PubMed: Kobayashi 1998, PubMed: Watanabe 2005 - - - Japan - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00151464 ? - - - - Japan - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00151465 ? PubMed: Cao 2001 - - - United States - - 0 - - Healthy/Control - 1 50 Johan den Dunnen
00151466 ? PubMed: Cao 2001 - - - United States Japan - 0 - - Healthy/Control - 1 9 Johan den Dunnen
00151467 ? - - F - United States - - 0 - - WWS - 1 1 Tom Winder
00151468 ? PubMed: Oliveira 2008 - F - Portugal - - 0 - - MDC brain changes; intellectual disability (HP:0001249) 2 1 Rosário dos Santos
00151469 17878207.? PubMed: Godfrey 2007 - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00151470 17878207.? PubMed: Godfrey 2007 - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00151471 17878207.? PubMed: Godfrey 2007 - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00151472 17878207.? PubMed: Godfrey 2007 - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00151473 17878207.? PubMed: Godfrey 2007 - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00151474 17878207.? PubMed: Godfrey 2007 - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00151475 17878207.? PubMed: Godfrey 2007 - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00151476 17878207.? PubMed: Godfrey 2007 - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00151477 - PubMed: Clement-Pat4, PubMed: Godfrey 2007 - F no Israel - >11y 0 - - LGMD hypotonia, febrile illness (skin vesicles), no contractures, hypertrophy, spine unaffected, weakness lower limbs > upper limbs, flexors stronger than extensors, eyes unaffected, no microcepahly, MRI brain normal; prednisolone treatment positive; no microcephaly, no eye involvement; CPK level 60000; no intellectual disability (-HP:0001249); able to walk 2 1 Johan den Dunnen
00151478 ? PubMed: Godfrey 2006, PubMed: Godfrey 2007 brother of 17878207.29b M no India Jewish >10y 0 - - LGMD hypotonia, gross motor developmental delay, no contractures, hypertrophy, weakness upper limbs > lower limbs, no microcepahly, periscapular atrophy, MRI brain normal; prednisone treatment positive; CPK level 9951; no intellectual disability (-HP:0001249); able to walk 2 1 Johan den Dunnen
00151479 - PubMed: Clement-Pat3, PubMed: Godfrey 2007 sister of 17878207.29a ? no India Jewish >10y 0 - - LGMD hypotonia, no contractures, hypertrophy, spine unaffected, weakness lower limbs > upper limbs, eyes unaffected, no microcepahly, MRI brain normal (frontal small subarachnoid cyst); prednisone treatment positive; no microcephaly, no eye involvement; CPK level 13000; no intellectual disability (-HP:0001249); able to walk 2 1 Johan den Dunnen
00151480 - PubMed: Clement-Pat1, PubMed: Godfrey 2007 - ? - - - - 0 - - MDC no contractures, no hypertrophy, spine unaffected, generelaised limb weakness, eyes unaffected, white matter mild abnormality, hypothyroid; no microcephaly, no eye involvement; CPK level 3200; no intellectual disability (-HP:0001249); able to sit 1 1 Johan den Dunnen
00151481 - PubMed: Godfrey 2007 - - - - - - 0 - - WWS contractures, hypertrophy, spine unaffected, retinal detachment, micropthalmia, MRI hydrocephaly, cerebellar hypoplasia, white matter abnormality, brainstem involvement, dysmorphic; CPK level 7000 2 1 Johan den Dunnen
00151482 - PubMed: Godfrey 2007 - - - - - - 0 - - MDC no contractures, hypertrophy, spine unaffected, eyes unaffected, MRI hydrocephalus, white matter abnormality, cerebellar cysts,; CPK level 4000; intellectual disability (HP:0001249); able to sit 2 1 Johan den Dunnen
00151483 FamPat31a/Pat45 PubMed: Godfrey 2007, PubMed: O'Grady 2016 2-generation family, 2 affected, unaffected heterozygous carrier parents F - - - - 0 - - LGMD contractures, spine unaffected,; CPK level 9000; no intellectual disability (-HP:0001249); able to run 2 2 Johan den Dunnen
00151484 FamPat31b PubMed: Clement-Pat2, PubMed: Godfrey 2007 relative of FamPat31a ? - - - - 0 - - LGMD contractures, hypertrophy, spine unaffected, weakness lower limbs > upper limbs, MRI normal, congenital hip dislocation, increased weakness with fever; no microcephaly, no eye involvement; CPK level 5700; no intellectual disability (-HP:0001249); able to run 2 1 Johan den Dunnen
00151485 ? PubMed: Beltran-Valero 2003 - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00151486 ? PubMed: Bouchet 2007 aborted fetus - - (France) - <0y 0 - - LIS - 1 1 Johan den Dunnen
00151487 ? PubMed: Bouchet 2007 - - - France - - 0 - - Healthy/Control - 1 7 Johan den Dunnen
00151488 patient1 {PMID18177472 :Cotarelo 2008} - F no Spain - 5d 0 - - WWS Dysmorphic facial features, brain and ocular changes; CPK level elevated 2 1 Rosário dos Santos
00151489 patient2 {PMID18177472 :Cotarelo 2008} - M no - Jewish-Ashkenazi - 0 - - WWS Hydrocephaly; brain and ocular changes 2 1 Rosário dos Santos
00151490 ? PubMed: Arimura 2008 - F - Japan - >19y 0 - - CMD CPK level 6570; FVC 38%; 41%; able to run (normal milestones) 2 1 Rosário dos Santos
00151491 ? PubMed: Manzini 2008, PubMed: Willer 2012 GM16192 Coriell Cell Repository - no United States white - 0 - - WWS brain and eye involvement, seizures; CPK level 2255 2 1 Rosário dos Santos
00151492 ? PubMed: Manzini 2008 - - - United States Hispanic - 0 - - WWS - 2 1 Rosário dos Santos
00151493 ? PubMed: Manzini 2008 - - no - Jewish-Ashkenazi - 0 - - WWS CPK level elevated 2 1 Rosário dos Santos
00151494 ? PubMed: Manzini 2008 - - no - Jewish-Ashkenazi - 0 - - WWS CPK level 39146 2 1 Rosário dos Santos
00151495 ? PubMed: Manzini 2008 - - no - Jewish-Ashkenazi - 0 - - WWS CPK level 9900 2 1 Rosário dos Santos
00151496 19179078.1 PubMed: Vuillaumier-Barrot 2009 sister of 19179078.2 F no Portugal white 35y 0 - - MDC progressive muscle weakness, posterior fossa malformation with cysts, MRI brain atrophy, multiple contractures, severe respiratory insufficiency, death septic shock; CPK level 2800-4900; intellectual disability (HP:0001249) IQv <50; 10y-lost ambulation 2 1 Rosário dos Santos
00151497 19179078.2 PubMed: Vuillaumier-Barrot 2009 sister of 19179078.1 F no Portugal white >19y 0 - - MDC posterior fossa malformation with cysts, MRI brain atrophy, low birth weight; CPK level raised; intellectual disability (HP:0001249) IQv 61; was able to sit 2 1 Rosário dos Santos
00151498 19179078.3 PubMed: Vuillaumier-Barrot 2009 - F - Turkey white >19y 0 - - LGMD delayed otor development, surgery for bilateral pes equinovarus (3y/7y); CPK level 4940; no intellectual disability (-HP:0001249); 11y-lost ambulation 2 1 Rosário dos Santos
00151499 19179078.4 PubMed: Vuillaumier-Barrot 2009 - M - France white >7y 0 - - LGMD post-exercise myalgia; CPK level 1500; no intellectual disability (-HP:0001249) IQ 104; able to walk 2 1 Rosário dos Santos
00151500 17036286.1 PubMed: Murakami 2006 brother of 17036286.2 M no Japan - >30y 0 - - CMD LVEF 14%, LVDd 69, LVDs 59; calf hypertrophy, 24y-Gowers sign, 18y-heart transplant; CPK level 400-3000; no intellectual disability (-HP:0001249) 2 1 Johan den Dunnen
00151501 17036286.2 PubMed: Murakami 2006 sister of 17036286.1 F no Japan - >33y 0 - - CMD LVEF 40%, LVDd 59, LVDs 46; CPK level 1500-1800; no intellectual disability (-HP:0001249) 2 1 Johan den Dunnen
00151502 17036286.3 PubMed: Murakami 2006 sister of 17036286.4 F no Japan - >22y 0 - - CMD LVEF 25%, LVDd 64, LVDs 57; calf hypertrophy; CPK level 2000-4000; no intellectual disability (-HP:0001249) 2 1 Johan den Dunnen
00151503 17036286.4 PubMed: Murakami 2006 brother of 17036286.3 M no Japan - 12y 0 - - CMD LVEF 14%, LVDd 75, LVDs 72; death cardiac failure; CPK level high; no intellectual disability (-HP:0001249) 2 1 Johan den Dunnen
00151504 17036286.5 PubMed: Murakami 2006 - F no Japan - >54y 0 - - CMD LVEF 31%, LVDd 78, LVDs 64; calf hypertrophy, 41y Gowers sign; CPK level 1200-2000; no intellectual disability (-HP:0001249) 2 1 Johan den Dunnen
00151505 17036286.6 PubMed: Murakami 2006 - F no Japan - >30y 0 - - CMD LVEF 32%, LVDd 63, LVDs 52; calf hypertrophy, 26y Gowers sign; CPK level 1139; no intellectual disability (-HP:0001249) 2 1 Johan den Dunnen
00151506 ? - - M - (United States) African American - 0 - - CMD S/P heart transplant 3 1 Tom Winder
00151507 ? - - - - (United States) - - 0 - - MDC - 1 1 Tom Winder
00151508 ? - no variants in POMT1, POMT2, POMGnT1, FKRP, LARGE - - (United States) - - 0 - - WWS - 1 1 Tom Winder
00151509 ? - - - - Mexico Hispanic - 0 - - WWS - 1 1 Tom Winder
00151510 ? - - - - United States - - 0 - - WWS - 2 1 Tom Winder
00151511 20620061-P1 PubMed: Lim 2010 - F - Korea - >2y 0 - - MDC speech: few words, patchy white matter changes; CPK level 5002; able to roll over 2 1 Johan den Dunnen
00151512 20620061-P2 PubMed: Lim 2010 - F - Korea - >8y 0 - - MDC mild, speech: sentences, patchy white matter changes; CPK level 4712; able to stand (assisted) 2 1 Johan den Dunnen
00151513 20620061-P3 PubMed: Lim 2010 - M - Korea - >2y 0 - - MDC severe, speech: no meaningful sounds, myopia, esotropia, patchy white matter changes; CPK level 4900; no head control 2 1 Johan den Dunnen
00151514 20620061-P4 PubMed: Lim 2010 - F - Korea - >2y 0 - - MDC severe, speech: babble, diffuse white matter changes; CPK level 7840; no head control 2 1 Johan den Dunnen
00151515 20620061-P5 PubMed: Lim 2010 - F - Korea - >7y 0 - - MDC severe, speech: babble, tracheostomy, diffuse white matter changes; CPK level 8566; no head control 2 1 Johan den Dunnen
00151516 20620061-P6 PubMed: Lim 2010 - M - Korea - >3y 0 - - MDC severe, speech: no meaningful sounds, cataract, diffuse white matter changes; CPK level 3798; no head control 2 1 Johan den Dunnen
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