Identification of a Novel Intronic Mutation in <i>VMA21</i> Associated with a Classical Form of X-Linked Myopathy with Autophagy

Abstract

Introduction VMA21-related myopathy is one of the rare forms of slowly progressive myopathy observed in males. Till now, there have been only a handful of reports, mainly from Europe and America, and two reports from India.

Keywords

• VMA21-related myopathy
• autophagy
• muscle MRI