Myalgic Becker Muscular Dystrophy Due to an Exon 15 Point Mutation: Case Series and Literature Review. Issue 2 (December 2022)

• Record Type: Journal Article
• Authors: Tavallaee, Zachary; Hamby, Tyler; Marks, Warren
• Is Part Of: Journal of clinical neuromuscular disease. Volume 24:Issue 2(2022)
• Page Start: 106
• Page End: 110
• Publication Date: 2022-12
• Subjects: DMD -- myalgic BMD -- hyperCKemia -- pediatric -- missense mutation; Neuromuscular diseases -- Periodicals; 616.744005
• DOI: 10.1097/CND.0000000000000413
• Languages: English
• ISSNs: 1522-0443

Abstract

Abstract: Dystrophinopathies result from mutations to the DMD gene. We report 5 boys in 3 families with heterogenous phenotypes due to a point mutation in the DMD gene: a hemizygous tyrosine-to-cysteine change in exon 15 (c.1724T>C) resulting in an amino acid substitution of leucine to proline at codon 575. This mutation has been reported before, with at least 3 prior patients presenting with similar clinical findings of myalgia, myoglobinuria, and occasional muscle cramping. The mutation on DMD c.1724T>C (p.Leu575Pro) is listed in the Clinvar database as a variant of unknown significance. Our report provides contributing evidence that this alteration should be classified as pathogenic.