FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum - Mroczek, Magdalena; Longman, Cheryl; Farrugia, Maria Elena; Kapetanovic Garcia, Solange; Ardicli, Didem; Topaloglu, Haluk; Hernández-Laín, Aurelio; Orhan, Diclehan; Alikasifoglu, Mehmet; Duff, Jennifer; Specht, Sabine; Nowak, Kristen; et al. (Journal of medical genetics, 2022)
Keywords: Age; Antidepressants; Anxiety disorders; Atrophy; Biopsy; Birth weight; Climbing; Congenital diseases; Creatine; Creatine kinase; Creatine Kinase - genetics; Fractures; Genetic variability; Genotypes; Homozygote; Humans; Long bone; Muscular Diseases - diagnosis; Muscular Diseases - genetics; Mutation; Myopathy; Neurogenetics; Neuromuscular Diseases; Patients; Pedigree; Phenotypes; Pregnancy; Quadriceps muscle; RNA-Binding Proteins - genetics; Scoliosis; Siblings; Sleep apnea; Spain; Neuromuscular Diseases