نتایج جستجو برای: ژن scn4a

تعداد نتایج: 15933  

Journal: :European Medical Journal Neurology 2022

Non-dystrophic myotonias (NDM) are rare muscle disorders caused by mutations in skeletal voltage-gated channels leading to delayed relaxation after voluntary contraction. They subdivided into sodium channelopathies, when the mutation is SCN4A gene, and chloride CLCN1 gene. Symptoms, which may differ according subtype, exacerbating factors, over disease course, can include stiffness, pain, fatig...

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