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Pseudometabolic presentation of dystrophinopathy due to a missense mutation
Author(s) -
Veerapandiyan Aravindhan,
Shashi Vandana,
Jiang YongHui,
Gallentine William Brian,
Schoch Kelly,
Smith Edward Clinton
Publication year - 2010
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.21823
Subject(s) - missense mutation , myalgia , rhabdomyolysis , medicine , exon skipping , exercise intolerance , muscle stiffness , mutation , exon , dystrophin , genetics , muscular dystrophy , biology , gene , alternative splicing , heart failure , stiffness , structural engineering , engineering
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. Muscle Nerve 42: 975–979, 2010