Neurol Genet 2021 Feb 24;7(1):e536. Epub 2020 Dec 24.
Medical Genetics Unit (R.S., R.R., F.F., C.T., A.M., M.N., F.G., A.F.), Department of Medical Sciences, University of Ferrara, Italy; Neurologie (Y.S.), CHU de Benbadis, Constantine, Algérie; 2nd Department of Paediatrics Clinic (L.S., A.H.), Semmelweis University; Institute of Genomic Medicine and Rare Disorders (B.F., M.J.M.), Semmelweis University, Budapest, Hungary; Department of Medical Genetics (L.A.), Medical University, Varna, Bulgaria; Department of Pediatrics (I. Litvinenko), Medical University Sofia; Department of Child Neurology (I. Litvinenko), University Pediatric Hospital "Prof. Ivan Mitev", Sofia; Department Pediatrics (I.I.), St. George University Hospital, Medical University Plovdiv, Bulgaria; Pediatric Neurology Department (Y.V.), Pediatric Neurologist County Clinical Emergency Hospital of Constanta; G. Curteanu Municipal Clinical Hospital Oradea (O.A.I.); Department of Neuroscience (M.V., M. Militaru), Iuliu Hatieganu University of Medicine and Pharmacy, Cluj Napoca; Pediatric Neurology Department (C.B., N.B.), "Alexandru Obregia" Clinical Psychiatry Hospital, Bucharest; "Grigore T Popa" University of Medicine and Pharmacy (B.L., C.R., M.P.); "Sfanta Maria" Children's Hospital (B.L., C.R., M.P.); Pediatric Clinical Hospital Sibiu (G.V.); "Dr. Victor Gomoiu" Children's Hospital (D.E., D. Vasile, M.S.); "Carol Davila" University of Medicine and Pharmacy (M.S., N.B.), Bucharest, Romania; Russian Children Neuromuscular Center (D. Vlodavets), Veltischev Clinical Pediatric Research Institute of Pirogov Russian National Research Medical University, Moscow, Russia; Department of Neuroscience Neurology and Pediatric Neurology "Iuliu Hatieganu" University of Medicine and Pharmacy (M. Mager), Faculty of Medicine; Pediatric Neurology Department (M. Mager), Emergency Clinical Hospital for Children, Cluj-Napoca, Romania; Department of Basic and Clinical Sciences (T.K.), University of Nicosia, Cyprus; Department of Pediatrics (S.D.), General Hospital Zadar, Zadar, Croatia; Department of Paediatrics (I. Lehman, J.S.F.); University Hospital Centre Zagreb, ; Faculty of Medicine University of Osijek (J.S.F.), Croatia; University Hospital of Neurology and Psychiatry Sveti Naum (V.B.); Clinic of Neurology (V.G.), University Hospital Sofiamed; Sofia University "St. Kliment Ohridski" (V.G.)Bulgaria; Institute of Biomedical Sciences (B.B.), Faculty of Medicine, Vilnius University, Lithuania; Ali Ait Idir Hospital (S.D.B., S.M.-M.), Algiers, Algeria; University of Algiers I. Algeria (S.D.B., S.M.-M.); Center of Genomic Medicine (A.C.E.), University of Medicine and Pharmacy Victor Babes Timisoara; Regional Center of Medical Genetics Timis (A.C.E.), Clinical Emergency Hospital for Children Louis Turcanu Timisoara, Romania; Department of Neurology (A.L., A.P., A.K.-P.), Medical University of Warsaw, Poland; Institute of Neurology (A.S.), Psychiatry and Narkology National Academy of Medical Science of Ukraine; Neurologie (D.B.K., O.D.), CHU Tidjani Damerdji, Tlemcen, Algerie; and BGI-Shenzhen (M.F., Z.L.), Shenzhen, China.
Objective: Genetic diagnosis and mutation identification are now compulsory for Duchenne (DMD) and Becker muscular dystrophies (BMD), which are due to dystrophin () gene mutations, either for disease prevention or personalized therapies. To evaluate the ethnic-related genetic assortments of mutations, which may impact on DMD genetic diagnosis pipelines, we studied 328 patients with DMD and BMD from non-European countries.
Methods: We performed a full DMD mutation detection in 328 patients from 10 Eastern European countries (Poland, Hungary, Lithuania, Romania, Serbia, Croatia, Bosnia, Bulgaria, Ukraine, and Russia) and 2 non-European countries (Cyprus and Algeria). Read More