Abstract
Autosomal recessive limb-girdle muscular dystrophy (LGMD) 2L is caused by mutations in the anoctamin-5-gene ( ANO5 ) that encodes a calcium-activated chloride channel.1,2 Limb-girdle muscle weakness can also be caused by an immune-mediated necrotizing myopathy (IMNM) with antibodies against 3-hydroxy-3-methylglutaryl-coenzyme-A-reductase (HMGCR), which catalyzes a rate-limiting step in cholesterol biosynthesis and is inhibited by statins.3,4 We report on a patient with LGMD2L and HMGCR-associated IMNM without previous statin exposure. The authors thank the technical personnel of the Departments of Neuropathology, Neurology, and Radiology, RWTH University Aachen, Germany, for technical assistance; and Dr. A. Vigneron (D-Tek, Mons, Belgium, specialized in the development of diagnostic tests in autoimmune disorders) for performing the myositis-specific and myositis-associated antibody assays, including HMGCR.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
