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Three novel MTM1 pathogenic variants identified in patients with X-linked myotubular myopathy presented by severe neonatal hypotonia: diagnostic algorithm, genotype-phenotype correlations
Title Three novel MTM1 pathogenic variants identified in patients with X-linked myotubular myopathy presented by severe neonatal hypotonia: diagnostic algorithm, genotype-phenotype correlations : Topic: 11. Neuromuscular Disorders. Control Number: 887 Author Kušíková Katarína Co-authors Witsch-Baumgartner Martina Škopková Martina SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV Gašperíková Daniela SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV RID ORCID Kolníková Miriam Kalev Ognian Weis Serge Weis Denisa Language eng - English Document kind rozpis článkov z periodík (rbx) Category GII - Other publications and documents which is not possible to categorize into classes/categories mentioned above Category of document (from 2022) O2 - Odborný výstup publikačnej činnosti ako časť knižnej publikácie alebo zborníka Type of document poster z podujatia Year 2022 
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Number of the records: 1