All individuals with variants in gene FKRP

564 entries on 6 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2 3 4 5 6     Next › Last »

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00000076 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000084 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000088 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00035836 - - - - - Germany - - 0 - - ? MGZ #69787: myopathy; MGZ #73156: suspected FSHD; MGZ #74067; MGZ #78792: suspected LGMD2I 1 1 Andreas Laner
00035837 - - - - - Germany - - 0 - - ? suspected muscle dystrophy 1 1 Andreas Laner
00035838 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035839 - - - - - Germany - - 0 - - MYOP myopathy 1 1 Andreas Laner
00035840 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035841 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035842 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00080940 - Trujillano et al., submitted unaffected parents - - - - - 0 - - MDDGB-6 Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 (OMIM:606612) 1 1 Daniel Trujillano
00080944 - Trujillano et al., submitted unaffected parents - - - - - 0 - - MDDGB-6 Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 (OMIM:606612) 1 1 Daniel Trujillano
00081047 - Trujillano et al., submitted unaffected parents - - - - - 0 - - MDDGB-6 Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 (OMIM:606612) 1 1 Daniel Trujillano
00101229 29065428-Pat3 PubMed: Navarro-Cobos 2017 - M ? (Mexico) Mexican 00y04m 0 yes - ? possible congenital muscular dystrophy phenotype; at 1m presented with hypotonia, hyperCKemia (3,000 UI/L, reference values: 55-170 UI/L) and respiratory insufficiency; muscle biopsy showed muscle atrophic fibers along with perimisial and endomisial fibrosis, but without establishing definitive or presumptive diagnosis; 4m-died with diagnosis of right heart failure, respiratory insufficiency, septic shock 1 1 Miguel Angel Alcántara-Ortigoza
00101230 29065428-Pat2 PubMed: Navarro-Cobos 2017 2-generation family, 1 affected M no Mexico Mexican ? 0 yes - MDDGB-5 6m-generalized hypotonia, facial weakness, severe motor delay; 14m-independent ambulation started, but lost at 24m; 11y-low weight and height, weakness and generalized muscular wasting, absence of osteotendinous reflexes, and scoliosis on X-ray chest evaluation 1 1 Miguel Angel Alcántara-Ortigoza
00101231 29065428-Pat1 PubMed: Navarro-Cobos 2017 2-generation family, patient and milder affected sister, unaffected heterozygous carrier parents M no Mexico Mexican >10y 0 yes - LGMD-2I;MDDGC-5 proximal and pelvic muscle weakness with Gowers' sign, discrete calf pseudohypertrophy; 14m-independent ambulation; 6y-myopathic gait, frequent falls, difficulties in running and with climbing; 10y-still ambulant; MRI muscle with adipose infiltration at gluteus maximus, adductor muscles and vastus lateralis; 9y-cardio-respiratory; hyperCKemia 2 2 Miguel Angel Alcántara-Ortigoza
00101232 29065428-Pat4 PubMed: Navarro-Cobos 2017 2-generation family, 1 affected, only mother available for analysis M ? Mexico Mexican >40y 0 no - - 6y-proximal muscle weakness affecting 4 extremities, calf pseudohypertrophy, hiperCKemia (unavailable values), myopathic pattern at EMG, respiratory insufficiency; 38y muscle biopsy inconclusive; clinical evolution after 40y unknown; loss ability to walk (HP:0006957) 24y; cardiomyopathy, dilated (HP:0001644); abnormality lung (HP:0002088) 1 1 Miguel Angel Alcántara-Ortigoza
00102350 ? Nevo ESHG2008 P01.202 daugther of Nevo_P2/P3 ? - (Israel) - - 0 - - MDC dystrophy, muscular, congenital; hypotonia, muscle weakness, seizures; CPK: 650-1420; no mental retardation 1 1 Johan den Dunnen
00108250 11251997-FamPat3 PubMed: de Paula 2001, PubMed: de Paula 2003 3-generation family, 1 affected, unaffected heterozygous carrier son/daughter F yes Brazil - - 0 - - LGMD onset teenager; 18y-more rapid progression; proximal weakness, very enlarged calves, serum CK increased 8-11x; mild limb-girdle muscular dystrophy; motor ability walk 1 3 Johan den Dunnen
00108281 11251997-FamS/D PubMed: de Paula 2001, PubMed: de Paula 2003 brother M - Brazil - >41y 0 - - Healthy/Control normal serum CK, both very strong/athletic 1 1 Johan den Dunnen
00108345 11251997-FamS PubMed: de Paula 2001, PubMed: de Paula 2003 sister F - Brazil - - 0 - - Healthy/Control normal serum CK, both very strong/athletic 1 1 Johan den Dunnen
00108359 - contact curator - M - United States - - 0 - - LGMD - 1 1 Johan den Dunnen
00146565 N3133 Politano et al., Neuromuscul.Disord. 12: 733 - - - - - - 0 - - hCK - 1 1 Johan den Dunnen
00146566 ? - - - - Netherlands - - 0 - - - - 1 1 Ieke Ginjaar
00146567 Fam8 / .. PubMed: Brockington, OMIM:var0004 - - no - - - 0 - - LGMD-2 - 2 4 Johan den Dunnen
00146568 1, 3 PubMed: Walter - F;M yes Germany - - 0 - - LGMD-2 - 4 1 Rolf Stucka
00146569 4, 5, .. PubMed: Walter 8 cases families non-consanguineous parents F;M yes Germany - - 0 - - LGMD-2 - 4 8 Rolf Stucka
00146570 6, 13 PubMed: Walter - F - Germany - - 0 - - LGMD-2 - 4 3 Rolf Stucka
00146571 ? PubMed: Brockington 2001 - - - United Kingdom (Great Britain) - - 0 - - - - 1 1 Johan den Dunnen
00146572 2 PubMed: Walter - M - Croatia (Hrvatska) - - 0 - - LGMD-2 - 4 3 Rolf Stucka
00146573 Fam6 / Fam16 PubMed: Brockington, PubMed: Mercuri, OMIM:var0004 2 non-consanguineous families - - - - - 0 - - LGMD-2 - 2 2 Johan den Dunnen
00146574 ? Yamamoto WMS2005 G.P.2.08 - - - Brazil - - 0 - - - - 1 1 Johan den Dunnen
00146575 ? PubMed: Frosk European origin, 19 affecteds 5 families - - United States Hutterite - 0 - - LGMD-2 4/14 cardiomyopathy, 9/17 calf hypertrophy; CPK 33x mean 4 19 Johan den Dunnen
00146576 II-1 PubMed: Muller 2005, PubMed: Gaul 2006 brothers M - Germany - - 0 - - MD no muscle weakness; CPK 4x / 7x / 25x 2 3 Johan den Dunnen
00146577 ? Sveen WMS2005 L.P.3.06 28 patients - - Denmark - - 0 - - LGMD-2 - 2 28 Marianne Schwartz
00146578 ? Ginjaar WMS2005, ten Dam, submitted 2019 - F - Netherlands - >26y 0 - - LGMD proximal muscle weakness lower extremities, involvement proximal muscles upper limb/shoulder girdle in disease course, CPK 293, no cardiac involvement 1 1 Ieke Ginjaar
00146579 Pat3 PubMed: Boito 2005 adopted M - Italy - >42y 0 - - LGMD-2 lost ambulation 42y 2 1 Johan den Dunnen
00146580 Pat8 PubMed: Boito 2005 7 affecteds, 5M [one asymptomatic], 2F F;M - Italy - - 0 - - LGMD-2 - 2 7 Johan den Dunnen
00146581 Pat18 PubMed: Boito 2005 - F - Italy - >63y 0 - - LGMD-2 - 2 1 Johan den Dunnen
00146582 Fam4; patient 3 PubMed: de Paula 2003; PubMed: Yamamoto 2008 - F - Brazil - >24y 0 - - LGMD-2 mild, able to walk; CPK 13x 2 2 Johan den Dunnen
00146583 ? - - F - Germany - >30y 0 - - LGMD-2 CPK >2000 2 1 Lab Müller-Reible
00146584 ? Freixas ESHG2006 P0925 - F;M no Spain - - 0 - - LGMD - 2 3 Johan den Dunnen
00146585 ? Freixas ESHG2006 P0925 - - no Croatia (Hrvatska) - - 0 - - LGMD - 2 1 Johan den Dunnen
00146586 ? ten Dam, submitted 2019 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M - Netherlands - - 0 - - LGMD proximal muscle weakness lower extremities, involvement proximal muscles upper limb/shoulder girdle in disease course, no cardiac involvement 1 2 Ieke Ginjaar
00146587 ? ten Dam, submitted 2019 - F - Netherlands - - 0 - - LGMD proximal muscle weakness lower extremities 1 1 Ieke Ginjaar
00146588 ? PubMed: Harel 2004, OMIM:var0011 15 affecteds; chromosome 19 linked - - Israel Bedouin - 0 - - LGMD - 2 15 Johan den Dunnen
00146589 ? ten Dam, submitted 2019 - F - Netherlands - - 0 - - LGMD proximal muscle weakness lower extremities, involvement proximal muscles upper limb/shoulder girdle at presentation, CPK 4456, loss ambulation 28y, no cardiac involvement, 43y-non-invasive ventilation 1 1 Ieke Ginjaar
00146590 ? ten Dam, submitted 2019 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Netherlands - - 0 - - LGMD proximal muscle weakness lower extremities, involvement proximal muscles upper limb/shoulder girdle at presentation, CPK 7000, loss ambulation 32y, cardiac involvement 1 2 Ieke Ginjaar
00146591 ? ten Dam, submitted 2019 - F - Netherlands - - 0 - - LGMD no muscle weakness, involvement proximal muscles upper limb/shoulder girdle at presentation, CPK 7845, cardiac involvement 1 1 Ieke Ginjaar
00146592 ? ten Dam, submitted 2019 - F - Netherlands - - 0 - - LGMD proximal muscle weakness lower extremities, involvement proximal muscles upper limb/shoulder girdle at presentation, CPK 7550, no cardiac involvement, 35y-non-invasive ventilation 1 1 Ieke Ginjaar
00146593 Pat4 PubMed: Gaul 2006 myoglobin: 9x F - Germany - >24y 0 - - LGMD CPK 160x 2 1 Johan den Dunnen
00146594 Pat5 PubMed: Gaul 2006 - M - Germany - >47y 0 - - LGMD CPK 2x 2 1 Johan den Dunnen
00146595 Pat6 PubMed: Gaul 2006 myoglobin: 8x F - Germany - >17y 0 - - LGMD CPK 30x 2 1 Johan den Dunnen
00146596 Fam5-7 / 8 / 9 PubMed: Gaul 2006 myoglobin: 1.5x F;M - Germany - - 0 - - LGMD CPK 7x / 5x / 4x 2 3 Johan den Dunnen
00146597 Pat1 Reilich, Acta Myol. XXV:73 founder allele M - Germany Hutterite >46y 0 - - LGMD-2 EMG compatible with chronic myopathy, dilated cardiomyopathy; CPK 1500 2 1 Johan den Dunnen
00146598 Pat2 Reilich, Acta Myol. XXV:73 Hutterite founder allele ? no Germany Hutterite >45y 0 - - LGMD-2 EMG compatible with chronic myopathy, ambulant 45y; CPK 361 2 1 Johan den Dunnen
00146599 ? Freixas ESHG2006 P0925 - F - Spain - >40y 0 - - LGMD CPK normal 2 1 Johan den Dunnen
00146600 Fam11: patient 8 PubMed: de Paula 2003; PubMed: Yamamoto 2008, OMIM:var0015 2 asymptomatic brothers; 19q13 linked F - Brazil - 33y 0 - - LGMD-2 mild with hCK, remained ambulant; CPK 6x 2 1 Johan den Dunnen
00146601 Pat1/Pat12 PubMed: Beltran, PubMed: Torelli 2005, PubMed: Mercuri 2006, OMIM:var0016 non-consanguineous parents M no Germany - - 0 - - MEB proximal muscle weakness, cardiac arrhythmia, age 67 pacemaker support 2 1 Johan den Dunnen
00146602 Pat1/?/Pat6 PubMed: Talim 2000 - - - - - - 0 - - MDC cerebellar cysts on MRI; IQ 50 2 1 Johan den Dunnen
00146603 ? - - M - Turkey - >2y 0 - - LGMD-2 - 2 1 Lab Müller-Reible
00146604 ? - - M - United States - - 0 - - LGMD-2 - 2 1 Akanchha Kesari
00146605 Pat2/Pat13 PubMed: Beltran, PubMed: Mercuri 2006, OMIM:var0017 no change in POMT1 and POMGnT1 genes F - - Asia 3y 0 - - WWS - 2 1 Johan den Dunnen
00146606 Pat5 PubMed: Quijano-Roy 2006 first cousin parents F - Turkey - >9y 0 - - LGMD IQ 62 2 1 Johan den Dunnen
00146607 Fam1 PubMed: Brockington - - no - - - 0 - - LGMD-2 - 2 1 Johan den Dunnen
00146608 ? - - - - Germany - - 0 - - LGMD-2 - 2 1 Lab Müller-Reible
00146609 ? Yamamoto WMS2005 G.P.2.08 - - - Brazil - - 0 - - - - 1 1 Johan den Dunnen
00146610 ? PubMed: Boito 2005 - - - Italy - - 0 - - - - 1 1 Johan den Dunnen
00146611 ? Freixas ESHG2006 P0925 - F - Spain - >10y 0 - - ? CPK 3x 1 1 Johan den Dunnen
00146612 ? PubMed: Boito 2005 - - - Italy - - 0 - - - - 1 1 Johan den Dunnen
00146613 4118 PubMed: Louhichi 2004, OMIM:var0010 - M - Algeria - - 0 - - MDC severe, microcephaly, incl. MR, MRI white matter changes, cerebellar cysts; never walked; intellectual disability; CPK 1370 2 1 Johan den Dunnen
00146614 ? - - F - Turkey - >3y 0 - - LGMD - 1 1 Lab Müller-Reible
00146615 ? PubMed: Boito 2005 - - - Italy - - 0 - - - - 1 1 Johan den Dunnen
00146616 ? PubMed: Brockington - - - - - - 0 - - - - 1 1 Johan den Dunnen
00146617 Fam9; patient 12 PubMed: de Paula 2003; PubMed: Yamamoto 2008, OMIM:var0012 first cousin parents, father not carrier M yes Brazil - >25y 0 - - LGMD intermediate; lost ambulation 17y; CPK 19x 1 1 Johan den Dunnen
00146618 Fam2 PubMed: Brockington 2001, PubMed: Mercuri 2003, PubMed: Torelli 2005, OMIM:var0003 - F - Libya - - 0 - - MDC never walked; CPK 2478 2 1 Johan den Dunnen
00146619 20 PubMed: Louhichi 2004, PubMed: Triki 2003, OMIM:var0009 founder mutation in 6 patients from 6 consanguineous families F;M - Tunisia - - 0 - - MDC incl. severe psychomotor retardation, mental retardation and white matter changes and/or cerebellar structural abnormalities on MRI; all intellectual disability; CPK 4400 / .. 2 6 Johan den Dunnen
00146620 Pat1 PubMed: Quijano-Roy 2006 first cousin parents F - Morocco - >1y3m 0 - - MDC severe 2 1 Johan den Dunnen
00146621 Pat3 PubMed: Mercuri 2006 - - - - - - 0 - - MDC - 2 1 Johan den Dunnen
00146622 Pat1 PubMed: MacLeod 2007, OMIM:var0018 non-consanguineous parents F no Mexico - >5y 0 - - LGMD CPK 7500 2 1 Johan den Dunnen
00146623 ? - - F - United States - >21y 0 - - MDC - 1 1 Tom Winder
00146624 Pat2 PubMed: MacLeod 2007, OMIM:var0018 non-consanguineous parents F no Mexico - >3y 0 - - LGMD CPK 6607 2 1 Johan den Dunnen
00146625 pat6/Pat8 PubMed: Brockington, PubMed: Quijano-Roy 2006 - F no Netherlands Antilles - >18y 0 - - MDC lost ambulation 6y; CPK 7760 2 1 Johan den Dunnen
00146626 Pat5 PubMed: Mercuri 2006 - - - - - - 0 - - LGMD-2 - 2 1 Johan den Dunnen
00146627 ? PubMed: Driss, PubMed: Driss, OMIM:var0006 13 affecteds, originally used to map this locus (Driss 2000) - yes Tunisia - - 0 - - LGMD-2 - 4 13 Johan den Dunnen
00146628 ? PubMed: Brockington 2001 - - - United Kingdom (Great Britain) - - 0 - - - - 1 1 Johan den Dunnen
00146629 Fam13 PubMed: de Paula 2003, PubMed: Vieira 2006; PubMed: Yamamoto 2008, OMIM:var0013 - F - Brazil - - 0 - - LGMD mild 2 1 Johan den Dunnen
00146630 Pat3 PubMed: Quijano-Roy 2006 first cousin parents F - Algeria - >3y 0 - - LGMD - 2 1 Johan den Dunnen
00146631 Pat6 PubMed: Quijano-Roy 2006 first cousin parents M - Algeria - >3y 0 - - LGMD - 2 1 Johan den Dunnen
00146632 ? PubMed: Driss - - - Tunisia - - 0 - - - - 2 1 Johan den Dunnen
00146633 Fam9 PubMed: Brockington, OMIM:var0004 - - - - - - 0 - - LGMD-2 - 2 1 Johan den Dunnen
00146634 ? PubMed: Driss - - - Tunisia - - 0 - - - - 1 4 Johan den Dunnen
00146635 ? PubMed: Walter, PubMed: Frosk - - - Germany - - 0 - - - - 1 41 Rolf Stucka
00146636 ? Ginjaar WMS2005 no consanguinity - - Netherlands - - 0 - - LGMD CPK 1.5x / 12.5x / 8x 1 3 Ieke Ginjaar
00146638 ? Ginjaar WMS2005 - - - Netherlands - - 0 - - LGMD - 1 1 Ieke Ginjaar
00146639 Pat11 PubMed: Mercuri 2006 - - - - - - 0 - - MEB - 2 1 Johan den Dunnen
00146640 ? - - M - United States - - 0 - - ? - 1 1 Akanchha Kesari
00146641 Fam10; patient 7 PubMed: de Paula 2003; PubMed: Yamamoto 2008, OMIM:var0014 female sibling equally affected F - - - >34y 0 - - LGMD-2 hyperCKemia (CPK 22x), able to walk 2 2 Johan den Dunnen
00146642 Fam11 PubMed: Brockington - - - - - - 0 - - LGMD-2 - 1 1 Johan den Dunnen
00146643 ? PubMed: Brockington 2001 - - - - - - 0 - - - - 1 1 Johan den Dunnen
Legend   « First ‹ Prev     1 2 3 4 5 6     Next › Last »