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- W4220783508 abstract "X-linked myotubular myopathy, a rare disorder is part of a group of congenital myopathies that present in the neonatal period. While the clinical presentation in the antenatal period may be varied, the postnatal presentation is of a delayed cry, hypotonia and weakness resembling fetal hypoxia and acidosis. The presence of such features without any factors predisposing towards hypoxia, or a recurring phenotype should prompt a detailed evaluation of the neonate, including genetic evaluation in selected cases. A genetic diagnosis will also aid in evaluation of family members, including an early prenatal diagnosis in future siblings. Keywords: X-linked myotubular myopathy; MTM1; prenatal diagnosis." @default.
- W4220783508 created "2022-04-03" @default.
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- W4220783508 date "2022-01-05" @default.
- W4220783508 modified "2023-09-30" @default.
- W4220783508 title "Prenatal evaluation for the diagnosis of X-Linked myotubular myopathy in a known affected sibling: A case report" @default.
- W4220783508 doi "https://doi.org/10.52768/2766-7820/1537" @default.
- W4220783508 hasPublicationYear "2022" @default.
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