Pseudometabolic presentation of dystrophinopathy due to a missense mutation.

Journal Article (Journal Article)

Exercise intolerance with myalgia, muscle stiffness, and recurrent rhabdomyolysis due to mutations in the DMD gene can mimic metabolic myopathies leading to delayed or inaccurate diagnoses. In this retrospective chart review, we report 3 unrelated boys with exertional myalgia, muscle stiffness, myoglobinuria, and normal neurological examination due to an identical point mutation in the DMD gene: a hemizygous T-to-C change in exon 15 (c.1724T>C) resulting in an amino acid substitution of leucine to proline at codon 575. Two of the 3 boys had normal dystrophin immunostaining and Western blot analysis in muscle. This missense mutation has been reported twice before, with at least 1 patient exhibiting rhabdomyolysis. Our report, however, is the first to describe in detail the clinical findings associated with this specific mutation. Further studies and clinical reports are needed to better understand the pathogenicity of the mutation.

Full Text

Duke Authors

Cited Authors

  • Veerapandiyan, A; Shashi, V; Jiang, Y-H; Gallentine, WB; Schoch, K; Smith, EC

Published Date

  • December 2010

Published In

Volume / Issue

  • 42 / 6

Start / End Page

  • 975 - 979

PubMed ID

  • 21104870

Pubmed Central ID

  • PMC5506871

Electronic International Standard Serial Number (EISSN)

  • 1097-4598

Digital Object Identifier (DOI)

  • 10.1002/mus.21823


  • eng

Conference Location

  • United States