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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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| 出版年: | Clin Case Rep |
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| 主要な著者: | , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
John Wiley and Sons Inc.
2018
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| 主題: | |
| オンライン･アクセス: | 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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