Congenital Myasthenic Syndrome: Spectrum of Mutations in an Indian Cohort
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Clinical Neuromuscular Disease"
DOI: 10.1097/cnd.0000000000000222
Abstract: 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… read more here.
Keywords: congenital myasthenic; myasthenic syndrome; syndrome spectrum;
High energy expenditure in a patient with feeding problems and Noonan syndrome spectrum disorder
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DOI: 10.1136/bcr-2021-247513
Abstract: Feeding problems are present in more than 50% of patients with a Noonan syndrome spectrum disorder in the first years of life. Food intake problems like severe or frequently vomiting may not only affect growth… read more here.
Keywords: spectrum disorder; syndrome spectrum; noonan syndrome; energy ... See more keywords