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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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Autors principals: Hehir, Michael K, Logigian, Eric, Raja Rayan, Dipa L, Ciafaloni, Emma
Format: Artigo
Idioma:Inglês
Publicat: BMJ Publishing Group 2013
Matèries:
Accés en línia: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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