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

Maryam Nabavi Nouri, Anne-Marie Lamhonwah, Ingrid Tein
Clinical Case Reports 2018 March
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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