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Double trouble in a patient with myotonia
Non-dystrophic myotonias (NDM) are characterised by muscle stiffness during voluntary movement owing to delayed skeletal muscle relaxation caused by mutations in the chloride (CLCN1) and sodium (SCN4A) skeletal muscle channel genes. Late onset acid maltase deficiency (AMD) is characterised by progre...
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| Auteurs principaux: | , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
BMJ Publishing Group
2013
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3604294/ https://ncbi.nlm.nih.gov/pubmed/23417379 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2012-008167 |
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