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A novel de novo mutation in MYH7 gene in a patient with early onset muscular weakness and severe kyphoscoliosis: A case report
INTRODUCTION: Various phenotypes have been identified for MYH7 gene mutation-related myopathy. Here, we describe a patient with severe muscular weakness and skeletal deformity with de novo heterozygous MYH7 gene mutation. PATIENT CONCERNS: A 33-year-old woman presented with early onset of muscular w...
में बचाया:
| में प्रकाशित: | Medicine (Baltimore) |
|---|---|
| मुख्य लेखकों: | , , , , |
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
Wolters Kluwer Health
2019
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| विषय: | |
| ऑनलाइन पहुंच: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6641756/ https://ncbi.nlm.nih.gov/pubmed/31305444 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000016389 |
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