Biallelic Loss‐Of‐Function Variant in ATP5ME Is Associated With Severe and Early Onset Oxidative Phosphorylation Deficiency

Journal of Inherited Metabolic Disease · Published 2026-07-01 · DOI 10.1002/jimd.70222

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Authors (17)

Pranavi Hegde, Aakanksha Anand, Rita Rani, Namanpreet Kaur, Ami Shah, Shilpa Kulkarni, Janani Supraja Mallavaram, Raghavender Medishetti, Amoolya Kandettu, Huzail Shaikh, Shahyan Siddiqui, Purvi Majethia, Vivekananda Bhat, Periyasamy Radhakrishnan, Aarti Sevilimedu, Sanjiban Chakrabarty, Anju Shukla

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Publication details

Year

2026

Citation

Hegde, P., Anand, A., Rani, R., et al. (2026). Biallelic Loss‐Of‐Function Variant in ATP5ME Is Associated With Severe and Early Onset Oxidative Phosphorylation Deficiency. Journal of Inherited Metabolic Disease. https://doi.org/10.1002/jimd.70222

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