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Novel myophosphorylase mutation (p.Arg94Pro) with progressive exercise intolerance
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 homozyg...
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| Vydáno v: | Clin Case Rep |
|---|---|
| Hlavní autoři: | , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
John Wiley and Sons Inc.
2018
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5838269/ https://ncbi.nlm.nih.gov/pubmed/29531726 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.1233 |
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