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A new dysferlin gene mutation in a Portuguese family with Miyoshi myopathy
Dysferlinopathies are autosomal recessive muscular dystrophies caused by mutations in the dysferlin gene (DYSF). A 33-year-old man was born to a non-consanguineous couple. At the age of 25 he stared to feel weakness of the distal lower limbs and also experienced episodes of rhabdomyolysis. Electromy...
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| Publicado no: | BMJ Case Rep |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Publishing Group
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8291323/ https://ncbi.nlm.nih.gov/pubmed/34281941 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2021-242341 |
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