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A novel missense mutation in the MYH7 gene causes an uncharacteristic phenotype of myosin storage myopathy: a case report
BACKGROUND: Few manuscripts have reported phenotypes of skeletal muscle myopathies caused by mutations in the head region of slow/cardiac beta-myosin heavy chain (MyHCI). Among the patients, some of them showed the phenotype of skeletal muscle weakness with the obvious clinical features of cardiomyo...
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| Wydane w: | BMC Med Genet |
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| Główni autorzy: | , , , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
BioMed Central
2019
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6507130/ https://ncbi.nlm.nih.gov/pubmed/31068177 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-019-0804-0 |
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