A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era - Sorbonne Université Access content directly
Journal Articles Orphanet Journal of Rare Diseases Year : 2018

A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era

Abstract

Congenital myasthenic syndromes (CMS) are a heterogeneous group of inherited neuromuscular disorders sharing the common feature of fatigable weakness due to defective neuromuscular transmission. Despite rapidly increasing knowledge about the genetic origins, specific features and potential treatments for the known CMS entities, the lack of standardized classification at the most granular level has hindered the implementation of computer-based systems for knowledge capture and reuse. Where individual clinical or genetic entities do not exist in disease coding systems, they are often invisible in clinical records and inadequately annotated in information systems, and features that apply to one disease but not another cannot be adequately differentiated.
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Dates and versions

hal-04534724 , version 1 (05-04-2024)

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Rachel Thompson, Angela Abicht, David Beeson, Andrew G Engel, Bruno Eymard, et al.. A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era. Orphanet Journal of Rare Diseases, 2018, 13 (1), pp.211. ⟨10.1186/s13023-018-0955-7⟩. ⟨hal-04534724⟩
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