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- W2535980147 abstract "La miotonía congénita es la forma más común de miotonía no distrófica. Esta miopatía está causada por mutaciones en el gen CLCN1, codificante del principal canal de iones cloruro del músculo esquelético (ClC-1); la alteración de la función de este canal, regulado por voltaje, da lugar al fenómeno de miotonía.La enfermedad se puede heredar con un tipo de herencia dominante (enfermedad de Thomsen) o recesiva (enfermedad de Becker o miotonía congénita generalizada). El fenotipo clínico de ambas formas de la enfermedad es similar aunque la forma recesiva se caracteriza por una mayor gravedad de los síntomas.El diagnóstico clínico de miotonía congénita debe sospecharse cuando encontramos en un paciente episodios de rigidez muscular (miotonía), remisión o alivio de la rigidez con el ejercicio (fenómeno warm-up), miotonía clínica, un patrón electromiográfico característico y/o historia familiar.El diagnóstico molecular de miotonía congénita consiste en el análisis por secuenciación del gen CLCN1.Myotonia congenita is the most common form of non-dystrophic myotonia. This myopathy is caused by mutations in the CLCN1 gene, encoding the main skeletal muscle chloride ion channel (ClC-1). Altering the function of this voltage-gated channel, leads to the phenomenon of myotonia.The disease can be inherited with a dominant (Thomsen disease) or recessive type (Becker disease or congenital generalised myotonia). The clinical phenotype of both forms of the disease is similar, although the recessive form is characterised by more severe symptoms.The clinical diagnosis of congenital myotonia should be suspected in a patient who presents with episodes of muscle stiffness (myotonia), remission or relief from stiffness with exercise (warm-up phenomenon), and a characteristic electromyography pattern, and/or family history.Sequencing the CLCN1 gene is the present approach for molecular diagnosis of myotonia congenita." @default.
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- W2535980147 date "2016-10-01" @default.
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- W2535980147 title "Gestión de los procesos preanalíticos en los laboratorios clínicos según los requisitos de la Norma UNE-EN ISO 15189:2013. Recomendación (2015)" @default.
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- W2535980147 doi "https://doi.org/10.1016/j.labcli.2016.09.003" @default.
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