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Homozygous Recessive MYH2 Mutation Mimicking Dominant MYH2 Associated Myopathy
Mutations in MYH2 that encodes myosin heavy chain IIa cause both dominant and recessively inherited myopathies. Patients with dominantly inherited MYH2 missense mutations present with ophthalmoplegia and progressive proximal limb weakness. Muscle biopsy reveals rimmed vacuoles and inclusions, prompt...
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| Yayımlandı: | Neuromuscul Disord |
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| Asıl Yazarlar: | , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
2018
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6466613/ https://ncbi.nlm.nih.gov/pubmed/29934118 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2018.05.006 |
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