Clinician’s guide to genes associated with Rett‐like phenotypes—Investigation of a Danish cohort and review of the literature von Schönewolf‐Greulich, B., Bisgaard, A‐M., Møller, R.S., Dunø, M., Brøndum‐Nielsen, K., Kaur, S., Van Bergen, N.J., Lunke, S., Eggers, S., Jespersgaard, C., Christodoulou, J., Tümer, Z.

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Lecocytes mutation load declines with age in carriers of the m.3243A>G mutation: A 10‐year Prospective Cohort von Langdahl, J.H., Larsen, M., Frost, M., Andersen, P.H., Yderstræde, K.B., Vissing, J., Dunø, M., Thomassen, M., Frederiksen, A.L.

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Primary failure of eruption of teeth in two siblings with a novel mutation in the PTH1R gene von Aziz, S., Hermann, N. V., Dunø, M., Risom, L., Daugaard-Jensen, J., Kreiborg, S.

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Short- and long-term effects of endurance training in patients with mitochondrial myopathy von Jeppesen, T. D., Dunø, M., Schwartz, M., Krag, T., Rafiq, J., Wibrand, F., Vissing, J.

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Acylcarnitine profiles in mitochondrial myopathies von Vissing, C, Christensen, M, Dunø, M, Wibrand, F, Olesen, J, Vissing, J

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449P Molecular biomarkers in myotonic dystrophy type 1 von Slipsager, A., Hildonen, M., Godtfeldt Stemmerik, M., Tümer, Z., Dunø, M., Birkedal, U., Vissing, J.

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P386 Molecular biomarkers in myotonic dystrophy type 1 von Slipsager, A., Hildonen, M., Stemmerik, M Godtfeldt, Tümer, Z., Dunø, M., Birkedal, U., Vissing, J.

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P133 Influence of X-chromosome activation pattern in muscles on symptoms and progression of cardiac and muscle symptoms signs in women with pathogenic dystrophin gene variants: a 6... von Lyu, Z., Poulsen, N., Joensen, H., Lando, C., Dunø, M., Bundgaard, H., Vejlstrup, N., Vissing, J.

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WS17.1 The ancient origin of F508del-CF: When and where the mutation arose von Farrell, P.M, Génin, E, Férec, C, Giteau, K, Frischer, T, Renner, S, Riss, K, Barton, D.E, Repetto, T, Tzetis, M, Macek, M, Dunø, M, Rogers, M, Sahbatou, M, Rouault, K, Fichou, Y, Le Maréchal, C

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396P 6-year follow-up on muscle affection in female carriers of dystrophinopathy von Lyu, Z., Poulsen, N., Joensen, H., Dunø, M., Bundgaad, H., Vejlstrup, N., Lando, C., Hansen, A., Vissing, J.

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A novel arginine-to-cysteine substitution in the triple helical region of the α1(I) collagen chain in a family with an osteogenesis imperfecta/Ehlers-Danlos phenotype von Lund, AM, Joensen, F, Christensen, E, Dunø, M, Skovby, F, Schwartz, M

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McArdle disease: a clinical review von Quinlivan, R, Buckley, J, James, M, Twist, A, Ball, S, Duno, M, Vissing, J, Bruno, C, Cassandrini, D, Roberts, M, Winer, J, Rose, M, Sewry, C

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Successful treatment with dupilumab of an adult with Netherton syndrome von Andreasen, T. H., Karstensen, H. G., Duno, M., Lei, U., Zachariae, C., Thyssen, J. P.

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Multiplex ligation-dependent probe amplification is superior for detecting deletions/duplications in Duchenne muscular dystrophy von Schwartz, M, Dunø, M

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P352 FDG PET/CT in multiple acyl-CoA dehydrogenase deficiency late-onset: a case report von Høj, A., Løkken, N., Holm-Yildiz, SD, Krag, T., Dejanovic, D., van Overeem Hansen, T., Dunø, M., Ørngreen, M Cathrine, Vissing, J.

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Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease von Lindquist, SG, Duno, M, Batbayli, M, Puschmann, A, Braendgaard, H, Mardosiene, S, Svenstrup, K, Pinborg, LH, Vestergaard, K, Hjermind, LE, Stokholm, J, Andersen, BB, Johannsen, P, Nielsen, JE

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Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy von Ostergaard, E, Batbayli, M, Duno, M, Vilhelmsen, K, Rosenberg, T

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P208 Paracetamol treatment in patients with spinal muscular atrophy: a different pharmacokinetic profile von Naume, M., Zhao, Q., Haslund-Krog, S., Krag, T., de Winter, B., Revsbeck, K., Vissing, J., Holst, H., Møller, M., Hornsyld, T., Dunø, M., Høi-Hansen, C., Born, A., Andersen, P., Ørngreen, M.

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First case of cystic fibrosis in Greenland – diagnosed by neonatal screening von M, Skov, A, Koch, M, Duno

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Osteogenesis imperfecta and the teeth, eyes, and ears—a study of non-skeletal phenotypes in adults von Hald, J.D., Folkestad, L., Swan, C.Z., Wanscher, J., Schmidt, M., Gjørup, H., Haubek, D., Leonhard, C.-H., Larsen, D.A., Hjortdal, J.Ø., Harsløf, T., Duno, M., Lund, A.M., Jensen, J.-E.B., Brixen, K., Langdahl, B.

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