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- [7] MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathyneurogenetics, 2015, 16 : 319 - 323Felix DistelmaierTobias B. HaackClaudia B. CatarinoConstanze GallenmüllerRichard J. RodenburgTim M. StromFabian BaertlingThomas MeitingerErtan MayatepekHolger ProkischThomas Klopstock
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- [9] Mutations in the nebulin gene associated with autosomal recessive nemaline myopathyPROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1999, 96 (05) : 2305 - 2310Pelin, KHilpelä, PDonner, KSewry, CAkkari, PAWilton, SDWattanasirichaigoon, DBang, MLCentner, THanefeld, FOdent, SFardeau, MUrtizberea, JAMuntoni, FDubowitz, VBeggs, AHLaing, NGLabeit, Sde la Chapelle, AWallgren-Pettersson, C
- [10] Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemiaBRAIN, 2024, 147 (07) : e45 - e49Distelmaier, FelixSezer, AbdullahHelm, ChristinaWaldmueller, StephanSeibt, AnnetteGangfuss, AndreaKoelbel, HeikeSchara-Schmidt, UlrikeYuksel, DenizTalim, BerilMayatepek, ErtanNikolin, StefanWeis, JoachimRoos, AndreasHaack, Tobias B.