Dipti Baskar, Aneesha Thomas, Vijay Kumar Boddu, Rashmi Santhoshkumar, Ram Murthy Anjanappa, Saraswati Nashi, Kosha Srivastava, Kiran Polavarapu, Gautham Arunachal, Ananthapadmanabha Kotambail, Bhoomika Rao, Anita Mahadevan, Atchayaram Nalini, Seena Vengalil

J Neuromuscul Dis. 2024 Dec 8:22143602241301635

PMID: 39973409

Congenital myopathies are a group of heterogenous inherited muscle diseases. With advances in genetics, newer genes with novel features are being described. Pyridine nucleotide-disulfide oxidoreductase domain 1 (PYROXD1) related myopathy is an ultrarare congenital myopathy. Only few cases have been reported worldwide till now. We report the first interesting case of PYROXD1 related myopathy from India.

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