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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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Detalles Bibliográficos
Main Authors: Hehir, Michael K, Logigian, Eric, Raja Rayan, Dipa L, Ciafaloni, Emma
Formato: Artigo
Idioma:Inglês
Publicado: BMJ Publishing Group 2013
Assuntos:
Acceso en liña: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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