Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent <i>ADSSL1</i> Missense Variant

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.