M I Kediha, M Tazir, D Sternberg, B Eymard, L Ali Pacha
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引用次数: 0
Abstract
Background: Congenital myasthenic syndromes (CMS) are a heterogeneous group of rare genetic disorders. The acetyl choline receptor contains five subunits, with a predominance of mutations affecting the epsilon subunit gene called cholinergic receptor nicotinic epsilon (CHRNE) gene.
Objective: To study the clinical phenotype of 17 families with CHRNE gene mutations.
Methods: We report a series of 17 families with 22 affected patients carrying different mutations encoding CHRNE proteins.
Results: We studied their clinical and biological phenotypes, as well as their evolutionary profile and their response to the different therapies proposed. A phenotypic comparison was made between the families carrying the founding Maghrebian mutation and the other mutations found in this series.
Conclusion: The CHRNE gene mutations are the most frequent ones in CMS. The phenotypes reported in this study are heterogeneous, and can depend on the causative mutation.
期刊介绍：
The first issue of the Revue Neurologique, featuring an original article by Jean-Martin Charcot, was published on February 28th, 1893. Six years later, the French Society of Neurology (SFN) adopted this journal as its official publication in the year of its foundation, 1899.
The Revue Neurologique was published throughout the 20th century without interruption and is indexed in all international databases (including Current Contents, Pubmed, Scopus). Ten annual issues provide original peer-reviewed clinical and research articles, and review articles giving up-to-date insights in all areas of neurology. The Revue Neurologique also publishes guidelines and recommendations.
The Revue Neurologique publishes original articles, brief reports, general reviews, editorials, and letters to the editor as well as correspondence concerning articles previously published in the journal in the correspondence column.
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