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• W2899386903 abstract "Objective: We aimed 1 to establish the genetic diagnoses of families with heterogeneity of muscular dystrophies (MD) and hereditary myopathies (HM) from Rio Grande do Sul, Brazil, 2 to evaluate the diagnostic yield of a NGS panel of 39 genes, and 3 to provide insights about the epidemiological profile of MD/HM in our region. Background: Due to the great clinical and genetic heterogeneity of MD and HM next-generation sequencing (NGS) technology is a cost and time-effective approach in the diagnostic process of these diseases. Design/Methods: Index cases from consecutive families seen in a neuromuscular diseases outpatient’ clinics were recruited from Oct, 2014 to Nov, 2016. Eligibility criteria were clinical and neurophysiological suspicion of MD/HM, familial recurrence of muscular disease or consanguinity. NGS of 39 MD/HM related-genes was performed with Ion Torrent-PGM. Results: Amongst 24 index cases, we achieved a definitive diagnosis in 37.5% (9/24) and a possible diagnosis in other 4 individuals (16.7%). Diagnostic yield for limb girdle muscular dystrophy (LGMD) was 50% (7/14), with 4 LGMD2A (28.5%: 2 defined, 1 probable, 1 possible), 2 definitive LGMD2B (14.3%), and 1 possible LGMD2K cases; for congenital muscular dystrophy and myopathy the diagnostic yield was 60% (3/5), 1 case of each LAMA2, RYR1, POMGNT1 related-disorders, and a false negative result for a SEPN1 related-disorder; and for muscle diseases with prominent joint contractures the diagnostic yield was 66% (2/3), 1 patient with defined Emery-Dreifuss disease and 1 with probable Ulrich-CMD-COL6A3. We also evaluated a single patient with autosomal dominant distal myopathy with normal results and a single patient with metabolic myopathy diagnosed with McArdle disease. Conclusions: A likely molecular diagnosis was obtained in more than half of families with the NGS panel, indicating that this should be a first-tier approach in the investigation for MD/HM. The most frequent types of MD/HM in Southern Brazil were LGMD2A and LGMD2B. Study Supported by: The study was supported by Fundo Incentivo a Pesquisa e Eventos-Hospital de Clinicas de Porto Alegre (FIPE-HCPA 17-0552) and unrestricted research grants from PTC-Therapeutics. Disclosure: Dr. Winckler has nothing to disclose. Dr. Chwal has nothing to disclose. Dr. Burgues has nothing to disclose. Dr. Madeira has nothing to disclose. Dr. Polese Bonato has nothing to disclose. Dr. Filippo Pinto e Vairo has nothing to disclose. Dr. Saute has nothing to disclose." @default.
• W2899386903 created "2018-11-09" @default.
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• W2899386903 date "2018-04-10" @default.
• W2899386903 modified "2023-09-26" @default.
• W2899386903 title "Diagnostic Yield of a Next Generation Sequencing Panel for Muscular Dystrophies and Hereditary Myopathies in Southern Brazil (P5.456)" @default.
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