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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.

Prenatal evaluation for the diagnosis of X-Linked myotubular myopathy in a known affected sibling: A case report