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N. Hpa

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Case report Open access Sep 2026

Case Report: RYR1-related myopathy with hypoxic ischemic encephalopathy—a case of severe neonatal presentation due to a de novo variant of uncertain significance

A newborn infant who presented at birth with severe hypoxic ischemic encephalopathy, underwent therapeutic hypothermia (TH), and was later diagnosed with RYR1-related myopathy is reported, providing evidence supportive of the pathogenicity of the identified VUS.

Saptadweepa Sanghamitra, Rupashree Mandala, H. Budh et al. · 0 citations

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