All individuals with variants in gene CFL2

11 entries on 1 page. Showing entries 1 - 11.
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00081005 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - NEM7 Nemaline myopathy 7, autosomal recessive (OMIM:610687) 1 1 Daniel Trujillano
00165290 Fam1Pat1 Fattori ESHG2018 P10.07 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Italy - - - - - MYOP congenital myopathy, severe 1 1 Johan den Dunnen
00165291 Fam2Pat1/2/3 Fattori ESHG2018 P10.07 2-generation family, affected brother and 2 sisters (2F, M), unaffected heterozygous carrier parents F;M no Italy - - - - - MYOP congenital myopathy, severe 2 3 Johan den Dunnen
00165292 22560515-Pat1 PubMed: Ockeloen 2012 5-generation family, 2 affected sisters; older sister F no Iraq Kurdish >21y - - - MYOP predominant axial and limb girdle weakness; 13y-severe kyphoscoliosis; CPK 134 U/l; 6m-sit, 11m-crawl, 2y6m-walk; 21y-loss ambulation 1 1 Johan den Dunnen
00165293 22560515-Pat2 PubMed: Ockeloen 2012 5-generation family, 2 affected sisters; younger sister F no Iraq Kurdish - - - - MYOP predominant axial and limb girdle weakness; 2y7m-hypotonia, hyperextension knees/elbows, waddling gait, Gowers’ sign; >5y-loss ambulation 1 1 Johan den Dunnen
00165294 17160903-Fam1.VIa PubMed: Agrawal 2007 older sister of 17160903-Fam1.VIc; 6-generation family, 2 affecteds, 16 heterozygous non-affected carriers F - (United States) Middle-East - - - - NEM typical NEM, but distribution weakness distinct (no significant facial weakness/foot drop); hypotonia at birth, delayed early motor milestones, frequent falls, inability to run; 4y-diagnosis nonspecfic; congenital myopathy, muscle biopsy marked fiber-size variability, type I predominance; 16y-walk short distances; 16y-loss ambulation 1 1 Alan Beggs
00165295 17160903-Fam1.VIc PubMed: Agrawal 2007 younger sister of 17160903-Fam1.VIa; 6-generation family, 2 affecteds, 16 heterozygous carriers F - (United States) Middle-East - - - - NEM typical NEM, but distribution weakness distinct (no significant facial weakness/foot drop); 2y-diagnosis NEM muscle biopsy sample nemaline bodies/occasional minicores and concentric laminated bodies; 9y-ambulant 1 1 Alan Beggs
00165296 con PubMed: Thirion 2001 - - - - - - - - - Healthy/Control - 1 5 Johan den Dunnen
00165297 myopathy, nemaline (NEM) - - M ? United States Hispanic - - - - Healthy/Control - 1 1 Tom Winder
00208845 - - - F - Germany - - - - - - HP:0000544 (External ophthalmoplegia); HP:0003198 (Myopathy) 1 1 Andreas Laner
00451604 FAM12007 - - M no (Australia) - - - - - MYOP cytoplasmic bodies with a necklace distribution, ringbinden, pronounced vacuolization 2 1 Gianina Ravenscroft
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