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Titinopathy, an atypical respiratory failure
Hereditary myopathy with early respiratory failure is a neuromuscular disease with an autosomal dominant inheritance pattern. Clinical presentation is characterised by proximal and distal muscle weakness, exertional dyspnoea and generalised fatigue. There is no disease-modifying therapy and the prog...
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| Pubblicato in: | BMJ Case Rep |
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| Autori principali: | , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BMJ Publishing Group
2020
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7482489/ https://ncbi.nlm.nih.gov/pubmed/32912888 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2020-235378 |
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