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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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Библиографические подробности
Главные авторы: Hehir, Michael K, Logigian, Eric, Raja Rayan, Dipa L, Ciafaloni, Emma
Формат: Artigo
Язык:Inglês
Опубликовано: BMJ Publishing Group 2013
Предметы:
Online-ссылка: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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