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Review
. 2022 Dec 1;24(2):106-110.
doi: 10.1097/CND.0000000000000413.

Myalgic Becker Muscular Dystrophy Due to an Exon 15 Point Mutation: Case Series and Literature Review

Zachary Tavallaee  1 , Tyler Hamby  1   2 , Warren Marks  3
Affiliations
Review

Myalgic Becker Muscular Dystrophy Due to an Exon 15 Point Mutation: Case Series and Literature Review

Zachary Tavallaee et al. J Clin Neuromuscul Dis. .

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.

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Conflict of interest statement

The authors report no conflicts of interest.

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