Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent <i>ADSSL1</i> Missense Variant
Dipti Baskar, Kiran Polavarapu, Veeramani Preethish‐Kumar, Seena Vengalil, Saraswati Nashi, Ana Töpf, Aneesha Thomas, Sai Bhargava Sanka, Deepak Menon, Kosha Srivastava, Gautham Arunachal, Bevinahalli N. Nandeesh, Hanns Lochmüller, Atchayaram Nalini
Abstract
Background and Objectives: gene located in chromosome 14q32.33 cause a distal myopathy phenotype. In this study, we present the clinical and genetic attributes of 6 Indian patients with this myopathy. Methods: myopathy. Details were obtained from the medical records. Results: gene. Discussion: myopathy with unusual manifestations in this rare disorder. Because the variant c.781G>A (p.Asp261Asn) is the most common mutation among Indian patients similar to other Asian cohorts, this finding could be useful for genetic screening of suspected patients.