Lu sur :https://www.ncbi.nlm.nih.gov/pubmed/30124556[hr][/hr]
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Congenital Myasthenic Syndrome: Spectrum of Mutations in an Indian Cohort.
Selvam P1, Arunachal G1, Danda S1, Chapla A2, Sivadasan A3, Alexander M3, Thomas MM3, Thomas NJ2.
J Clin Neuromuscul Dis. 2018 Sep;20(1):14-27. doi: 10.1097/CND.0000000000000222.
Abstract
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- OBJECTIVES:
To investigate the mutational spectrum and genotype-phenotype correlation in Indian patients with congenital myasthenic syndrome (CMS), using next-generation sequencing of 5 genes.
- METHODS:
CHRNE, COLQ, DOK7, RAPSN, and GFPT1 were sequenced in 25 affected patients.
- RESULTS:
We found clinically significant variants in 18 patients, of which variants in CHRNE were the most common, and 9 were novel. A common pathogenic COLQ variant was also detected in 4 patients with isolated limb-girdle congenital myasthenia.
- CONCLUSIONS:
Targeted screening of 5 genes is an effective alternate test for CMS, and an affordable one even in a developing country such as India. In addition, we recommend that patients with isolated limb-girdle congenital myasthenia be screened initially for the common COLQ pathogenic variant. This study throws the first light on the genetic landscape of CMSs in India
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