Congenital myasthenic syndromes (Q41374): Difference between revisions

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Síndrome miastênica congênita (SMC) é um grupo heterogêneo de doenças geneticamente determinadas. Existem quatro categorias bem definidas: Síndrome miastênica congênita com defeito pré-sináptico, SMC associada à lâmina basal sináptica, Miastenia congênita com defeito pós-sináptico, SMC com deficiência de glicosilação, e a categoria restante é a de SMC não especificada.
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Congenital myasthenic syndrome (CMS) is a heterogeneous group of genetically determined diseases. There are four well-defined categories: Congenital myasthenic syndrome with presynaptic defect, Synaptic basal lamina-associated CMS, Congenital myasthenia with postsynaptic defect, CMS with glycosylation deficiency, and the remaining category is that of unidentified CMS.

Revision as of 07:31, 13 August 2026

Congenital myasthenic syndrome (CMS) is a heterogeneous group of genetically determined diseases. There are four well-defined categories: Congenital myasthenic syndrome with presynaptic defect, Synaptic basal lamina-associated CMS, Congenital myasthenia with postsynaptic defect, CMS with glycosylation deficiency, and the remaining category is that of unidentified CMS.
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    Congenital myasthenic syndromes
    Congenital myasthenic syndrome (CMS) is a heterogeneous group of genetically determined diseases. There are four well-defined categories: Congenital myasthenic syndrome with presynaptic defect, Synaptic basal lamina-associated CMS, Congenital myasthenia with postsynaptic defect, CMS with glycosylation deficiency, and the remaining category is that of unidentified CMS.

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