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Novel myophosphorylase mutation (p.Arg94Pro) with progressive exercise intolerance

  • Nabavi Nouri M
  • Lamhonwah A
  • Tein I
Clinical Case Reports (2018) 6(3) 499-501
DOI: 10.1002/ccr3.1233
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Abstract

We present a 16‐year‐old girl with a unique clinical phenotype characterized by rapidly progressive exercise intolerance, transient exertional weakness, and progressive muscle cramps involving all limbs and bulbar muscles, following a first myoglobinuric episode at age 15 years, arising from homozygosity for a novel missense mutation (c.281G>C) in PYGM .

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Nabavi Nouri, M., Lamhonwah, A., & Tein, I. (2018). Novel myophosphorylase mutation (p.Arg94Pro) with progressive exercise intolerance. Clinical Case Reports, 6(3), 499–501. https://doi.org/10.1002/ccr3.1233

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