PubMed:30124556 JSONTXT

{"target":"http://pubannotation.org/docs/sourcedb/PubMed/sourceid/30124556","sourcedb":"PubMed","sourceid":"30124556","source_url":"https://www.ncbi.nlm.nih.gov/pubmed/30124556","text":"Congenital Myasthenic Syndrome: Spectrum of Mutations in an Indian Cohort.\nOBJECTIVES: To investigate the mutational spectrum and genotype-phenotype correlation in Indian patients with congenital myasthenic syndrome (CMS), using next-generation sequencing of 5 genes.\nMETHODS: CHRNE, COLQ, DOK7, RAPSN, and GFPT1 were sequenced in 25 affected patients.\nRESULTS: 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.\nCONCLUSIONS: 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.","tracks":[]}